Compounds of Histones (Beads on a strign)	Beads: H2A - H2B - H3 - H4, The OUTSIDE linker H1 that binds nucleosomes.
Charge of DNA	Negative (Phosphate groups)
Charge of HISTONES	Positive (Lysine and Arginine)
Phase in which DNA and HISTONE synthesis took place?	S phase.
Does mithocondria have histones?	NO
Darker and transcriptionally INACTIVE, H: Methylation L: Acetylation	Heterochromatin. / Barr bodies (Inactive X chromosome)
Lighter and trascriptionally ACTIVE,	Euchromatin
What effects has DNA METHYLATION	DNA Mute, CpG islands (Sileces gene transcriptions) 70% Human DNA is M. Related with immune response,
Processes that involve DNA Methylation	Genomic imprinting, X - chromosome inactivation, repression of transposable elements, agin, CARCINOGENESIS
Whas effects has HISTONE METHYLATION	Transcriptional suppression, but also can cause activation. MOSTLY DNA MUTE.
Whas effects has HISTONE ACETYLATION	To LYSINE, removes HISTONE + charge, RELAXES DNA, increasing transcripcion. ACTIVATES DNA.
Bacteria METHYLATION	Protects them from VIRUSES. Cytosine and Adenosine.
DRUGS INDUCING LUPUS	Hydralazine, Procainamide, Isoniazid by ANTI HISTONE ANTIBODIES (>95%) Fenitoina / INT alpha
PURINES	2 RINGS - PURE AS GOLD - Adedine - Guanine.
PYRIMIDINES	1 RING - CUT THE PYE - Citosine - Uracil - Thymine
Adenine DEAMINATION	Hypoxanthine
Guanine DEAMINATION	Xanthine
Cytosine DEAMINATION	URACIL
5-methylcytosine DEAMINATION	Thymine
Uracil METHYLATION	Thymine
Amino acids neccessary for PURine synthesis	GAG / Glycine - Aspartate - Glutamine
Drugs inhibiting PYRIMIDINE Synthesis	Leflunomide- Metotrexate (MTX) Thrimetoprim (TMP) Pyrimetamie - 5- Fluorouracil (5 FU) = Capecitabine)
LEFLUNOMIDE	Inhibits DIHYDROOROTATE DEHYDROGENASE (Carbamoyl P to Orotic acid)
MTX (humans) - TMP (bacteria) - Pyrimetamine (protozoa)	Inhibits DIHYDROFOLATE REDUCTASE ( DHF to THF = L dTMP deoxythymidine monophosphate)
5 - FU	Prodrug of CAPECITABINE - iInhibits THYMIDYLATE SYNTHASE (dUMP to dTMP = L dTMP)
Drugs inhibiting PURINE Synthesis	6 - Mercaptopurine (6-MP) = Azathioprine - Mycophenolate and Ribavirin.
MYCOPHENOLATE & RIBAVIRIN	Inhibis INOSINE MONOPHOSPHATE DEHYDROGENASE (IMP to GMP )
Drugs inhibiting PURINE & PYRIMIDINE Synthesis	Hydroxyurea
HYDROXYUREA	Inhybist RIBONUCLEOTIDE REDUCTASE.
CPS2 (Carbamoyl phosphate synthetase II ) Enzyme	In CyTWOsol (Pyrimidine Synthesis)
CPS1 (Carbamoyl phosphate synthetase I) Enzyme	In M1tochondria (Urea Cycle)
Key component in DE NOVO PYRIMIDINE Synthesis	OROTIC ACID
Key component in DE NOVO PURINE Synthesis	PHOSPHO RIBOSIL PYRO PHOSPHATE (PRPP)
OROTIC ACIDURIAS	affecting UREA CYCLE of PYRIMIDINE SYNTHESIS
Orotic aciduria seccondary to a PYRIMIDINE synthesis deffect	URIDINE MONOPHOSPATHE deficiency (Orotic acid to UMP ) H: Orotic acid.
UMP defficiency features	Impais nucleic acids needed for hematopoiesis: MEGALOBLASTIC ANEMIA, NO Hyperammonemia / Orotic acid crystal in urine, obstruction.
Orotic aciduria secondary to a UREA Cycle deffect	ORNITHINE TRASNCARBAMYLASE Defficiency (Ornithine to Citruline) HYPERAMMONEMIA.
Adenosine Deaminase Deficiency (ADA Deficiency)	SEVERE COMBINED INMUNOFEDICIENT DISEASE. (Adenosine to deoxyadenosine) : H: dATP = Lymphotoxicity. AUTOSOMAL RECESSIVE.
LESCH NYHAN SYNDROME	Deficient Hypoxanthine guanine phosphoribosyltransferase (Hypoxanthine to IMP & Guanine to GMP)
Lesch nyhan syndrome HERITANCE and TREATMENT	X linked reccesive / Excess in uric acid production / ALLOPURINOL or FEBUXOSTAT (2nd)
Lesch Nyhan Syndrome CLINICAL FEATURES	Hyperuricemia / Gout / Pissed off (Aggression, self mutilation) / Retardation / DysTonia. Orange sand in diaper.
GENETIC CODE FEATURES	Unambiguous / Degenerate , redundant / Commales, nonoverlapping / Universal.
Unambiguous	Each codon only 1 Aa
Degenerate, redundant	Wooble - Aa coded by multiple codons.
What and where are the origins of replication for DNA?	AT rich sequences (PROMOTERS TATA box regions - CAAT boxes)
Function of HELICASES	Uinwind DNA breaks H - bounds. - Deficient in BLOOM Syndrome
BLOOM Syndrome mutation	BLM gene mutation.
Inhibitors of TOPOISOMERASE I (TOP I)	Irinotecan - Topotecan EUKARYOTES
Inhibitors of TOPOISOMERASE II (TOP II)	Etoposide / Teniposide EUKARYOTES
Inhibitors of TOP II (DNA Gyrase) & TOP IV in PROKARYOTES	FLOUROQUINOLONES. ciprofloxacine, norfloxacine, ofloxacine,gemifloxacine, levofloxacine y moxifloxacine.
DNA polymerases in PRO and EUKARYOTES.	DNA polymerase III (Prokaryotes ) DNA polymerase I (Eukaryotes) Elongates DNA adding NTs to 3'
TELOMERASE sequences and features	TTAGGG ens "Telomerase TAGs for Greatnessand Glory"
Euk DNA Polymerase alpha and delta	Synthesis od DNA
Euk DNA Polymerase gamma (y)	Mithocondrial DNA
Euk DNA Polymerase betta and epsilon	Repair DNA.
MOA: AZT 3´Azido 2´,3´-DIDEOXYTHUMIDINE	Enter the cell and is converted to TRIPHOSPHATE (Substrate for a VIRAL REVERSE TRANSCRIPTASE), replace NTs with AZIDE, preventinf further replication.
Mutation in DNA	Silen - Missense - Nonsense - Frameshift.
TRANSITION	PURINE to PURINE or PYRIMIDINE for PYRIMIDINE
TRANSVERSION	PURINE to PYRIMIDINE.
Features of a SILENT mutation	NTs change that codes for the SAME Aa.
Features of a MISSENSE mutation	NTs change that codes for the DIFFERENT Aa. CONSERVATIVE: If the Aa is similar in chemical Structure.
SICKLE CELL DISEASE MISSENSE MUTATION	Glutamic acid with Valine
Features of a SILENT mutation	Nts change that codes por a STOP CODON - Non functional protein ussually
STOP CODONS	UAG UGA UAA (U Are Gone / U Go Away / U Are Away)
Features of a FRAMESHIFT mutation	Deletion or insertion of Aa NOT divisible by 3.
Diseases caused by FRAMESHIFT mutation	DUCHENNE MUSCULAR DYSTROPHY - TAY -SACHS DISEASE
Features of a SPLICE SITE mutation	Retained intron in the mRNA. Impaired or altered function.
Diseases caused by SPLICE SITE mutation	Cancers - DEMENTIA - Epilepsy - B- THALASEMIA.
B - THALASEMIA	Deficiency of BETA GLOBIN - Mediterranean areas / PROTECTIVE AGAINST MALARIA.
B - THALASEMIA FEATURES	Excessive activity of bone marrow / SKULL DEFORMITIES - LONG BONES AND EASY FRACTURES.
Diseases that PROTECT AGAINST MALARIA	B Thalasemia - GLUCOSE 6 PHOSPHATE DESHYDROGENASE DEFICIENCI (SICKLE CELL ANEMIA)
Diseases associated with LARGE SEGMENT DELETION	ALPHA THALASEMIA / CRI DU CHAT
ALPHA THALASEMIA	Deletion >1 genes for ALPHA GLOBIN on CHROMOSOME 16
CRI DU CHAT	Terminal deletion of the SHORT ARM of CHROMOSOME 5
Diseases associated with TRINUCLEOTIDE REPEAT EXPANSION	TRANSLATION disorders (HUNGTINGTON DISEASE / SPINOBULBAR MUSCULAR ATRHPHY) UNTRASLATED disorders (FRAGILE X SYNDROME / MYOTONIC DYSTROHPY / FRIEDREICH'S ATAXIA.
HUNGTINGTON DISEASE	Autosomal DOMINANT / Normal 5 tandem repeats / AFFECTED 30 - 60 (CAG) / Anticipation effect.
Hungtington Disease features	Mood disturbances, impaired memory, hyperrreflexy, abnormal gait, chorea, dementia, dystonia, dysphagia.
CYSTIC FIBROSIS	DELETION OF PHENYLALANINA af 508 position. Abnormal protein
ALPHA 1 ANTITRYPSIN DEFICIENCY	Alpha 1 antitryosin ins synthetized in liver and secreted / it INHIBITS PROTEASES protecting cells. Lots of varians S & Z most common.
Alpha 1 Antitrypsin def features	H: Liver function L: A1 antitrypsin : MICRONODULAR CIRRHOSIS and PROMINENT FIBROSIS
Metabolic preferred substrate for E.COLI	Glucose
What is neccesary for LAC operon activation	Absent GLUCOSA, LACTOSE available = Lactose metabolism.
Route of LOW GLUCOSE state	Increase ADENYLATE CYCLASE ACTIVITY = Increase cAMP from ATP = Activation of catabolite axtivador protein (CAP) = INCREASE TRANSCRIPTION.
Route of HIGH LACTOSE state	Unbdins reppressor = INCREASE TRANSCRIPTION.
Types of DNA repair	Single Strand (NTs&Base excision repair/Mismatch repair)-Double Sds(Nonhomologous end joining/Homologous recombinat)
Where does NTs excision repair take place?	G1 Phase.
What disease is associated with defect in NTs EXCISION REPAIR	XERODEMA PGMENTOSUM (DNA PYRIMIDINE DIMERS caused by UV expousur ( Dry skin, light sensitivitiy, skin cancer) )
XERODERMA PIGMENTOSUM Features	Autosomal RECESSIVE - Deficient EXONUCLEASE Enzyme. Carcinomes and Melanomes.
Where does BASE excision repair take place?	ALL CELL CYCLE.
Where does MISMATCH REPAIR take place?	S phase
What disease is associated with defect in MISMATCH REPAIR	Lynch Syndrome - Hereditary Non Polyposic Colorectal Cancer (HNPCC) Mutation of 1 of the genes hMLH1 / hMLH2
Whats the difference bet/ Nonhomologous and Homologous repair	NONHOMOLOGOUS: Loss of some DNA / HOMOLOGOUS: WithOUT loss of NTs.
What disease is associated with defect in NONHOMOLOGOUS REPAIR	ATAXIA-TELANGIECTASIA
What disease is associated with defect in HOMOLOGOUS RECOM.	BREAST AND OVARIAN CANCER wirh BRCA1 and FANCONI ANEMIA.
Start codon	UAG Methionine (Sometimes rarely GUG)
Name the processes taken to produce a PROTEIN	Transcription / Splicing / Translation
RNA processing processes in the NUCLEUS	Initian transcript (hnRNA) (Capping of 5´end-Polyadenylation of 3´end-Splicing out of INTRON-Called mRNA.
What is CAPPING OF 5' END	Addition of 7- METHYLGUANOSINE CAP
What is POLYADENYLATION OF 3' END	Addition of aprox. 200 A's
mRNA processing processes OUT of the NUCLEUS	Takes place in the PROCESSING BODIES (P-bodies)
What are the EUKARYOTIC RNA POLIMERASES	RNA polymerase I - II - III
What is the function of RNA polymerase I	Most common only in Nucleous PRODUCES: rRNA.
What is the function of RNA polymerase II	makes mRNA ans snRNA (small nuclear) / OPENS DNA AT PROMOTER SITE.
What substance inhibist RNA polymerase II	ALPHA-AMANITIN found in DEATH CAP MUSHROOMS Amania Phallodies. Severe HEPATOTOXICITY.
What is the function of RNA polymerase III	Makes 5S rRNA, tRNA (Tiny).
What are the PROKARYOTES RNA POLYMERASES	1 RNA polymerase, makes all kinds of RNA.
What substancea INHIBITS PROKARYOTIC RNA POLYMERASES	Rifampin.
What substancea INHIBITS BOT PRO AND EU RNA POLYMERASES	Actinomycin D also known as DACTINOMYCIN.
Diseases related with abnormal splicing	ONCOGENESIS, Beta thalassemia, Gaucher disease, Tay-Sachs disease, Marfan Syndrome.
What are and what is the function of MicroRNAs (miRNAs)	NON conding DNA that REGULATES GENE EXPRESSION.
Names of the processes in protein synthesis.	INITIATION - ELONGATION - TERMINATION
Characteristics of INITIATION in protein synthesis	Initiation factors (eIFs) identify the 5'CAP. Ribosome is assembled -eIFs is liberated. REQUIRES GTP
Estructure of Ribosome in PROKARYOTIC CELLS	30 + 50 S --- 70S PRIME
Estructure of Ribosome in EUKARYCELLS	40 S + 60S ----- 80S EVEN
Characteristics of TERMINATION in protein synthesis	Eukariotic releasefactor (eRFs) Recognize de STOP codon and halt translation. REQUIRES GTP
What are the POSTTRANSLATIONAL MODIFICACIONES	Trimming - Covalent alteracion (Phospholylation, Glycosylation, Hydroxylation, Methylation, Acetylation, Ubiquitination)
ESSENTIAL Aas	Histidine - Isoleucine - Leucine - Lysine - Methyonine - Phenylalanine - Threonine - Thyptophan - Valine
GLUCOGENIC Aas	GLYCINE - ALANINE - Phenylalanine (Can make it all)
KETOGENIC Aas	LEUCINE - LYSINE - Phenylalanine (Can make it all)
Aas that enter directly to KREBS CYCLE	VALINE - ASPARTATE - Phenylalanine (Can make it all)
What is the GIBBS FREE ENERGY	Delta G (Gibbs free E) = E product - E substrate.
A reation is expontaneus when:	E product is MINOR than E Substrate, NEGATIVE DELTA G
What is the ACTIVATION ENERGY	Delta G two plus (++) Amount of energy needed to achieve the TRANSITIONAL state/ ENZYMES decrease ACTIVATION E.
What increases Vmax of a reaction?	INDUCTION on gene expression of EZ - UP regulation of Receptors OR Transporters
What decreases Vmax of a reaction?	REPRESSION / DOWN regulation / NON competitive inhibition.
What increases KM of a reaction?	Competitive inhibitors - ADD MORE SUBSTRA - May make inh dissapear but INCREASES KM
What decreases KM of a reaction?	ACTIVATOR
What is the objetive in Aa METABOLISM	Ammonio is toxic - it is sent to LIVER to be transformed in UREA. Converting Aa in Ketoacyds.
Whats the name of the cycle involved in this process	CORY CYCLE for deamination and transamination processes and UREA CYCLE for elimination.
Compounds that regulate Check points in cell cycle	Cyclins - Cyclin dependent kinases - Tumor suppressors
Cell cycle parts	G1 (Growth) - S (DNA syn) - G2 - M. (Prophase:Nuclear memb.desintegrates, chrom. condensate) Meta(Chrom. at middle) ANA (Centromers pulls it) Telo (Nuclear memb. reform) CYTOKINESIS
Function of CYCLINS	Proteins that activate Cyclin Dependant Kinases (CKDs)
Function of CYCLINs - CDK complexes.	Phosporylate other substances to coordinate cell cycle prograssion.
What tumor suppressors get involved.	P53 induces P21, p21 INHIBITS CDKs. Acts in G1 to S progression. Also with grow factors like: Insulin, PDGF, EPO, EGF)
Mutation in Tumor supressors genes	Li Fraumeni Syndrome.
What are the three types of cells	Permanent ( Remain in G0 phase) - Stable (Enter to G1 from G0 when needed) - Labile (Never go G0)
Characteristics of Rough Endoplasmic Reticulum	Sythesis of SECRETORY PROTEINS (exported) & N-linked oligosaccharide adition to LYSOSOMAL and other proteins. ABUNDANT ins MUCUS GLOBET CELLS & AB PLASMA CELLS
What are NISSL bodies	RER in NEURONS. Synthetise PEPTIDE NT for secretion.
Characteristics of FREE Ribosomes	Synthesis of CYTOSOLIC, PEROXISOMAL AND MITOCHONDRIAL proteins.
Characteristics of Smooth Endoplasmic Reticulum	STEROID synrhesis, DETOXIFICATION of DRUGs and POISONS. Abundant in LIVER HEPATOCYTES & Steroid hormone producing cells of the ADRENAL CORTEX and GONADS.
Clases of Transduction of the signal	G - Protein coupled R (7 transmembrane domains - subunits Alpha, Beta, Gamma) - Enzyme coupled R - Ion channel R.
Subunits of G protein coupled R.	Gq (PHOSPHOLYPASE C) - Gi (ADENYLATE CYCLASE) - Gs (ADENYLATE CYCLASE)
Features of Gq	Phospolypase C cleaves PHOSPHATIDYLINOSITOL 4-5 BI P. into INOSITOL TRIP & DAG
What is IP3 function	Soluble goes to ER and opens CA CHANNELS, Ca into the Cytosol = DEPOLARIZATION
What is DAG function	binds to PROTEIN KINASE C on membrane, increasing Ca in cell, activatin proteins.
Features of Gs	Produces cAMP that goes to cytoplasm and binds to PROTEIN KINASE A which turns free to PHOSPHORYLATE PROTEINS.
Features of Gi	Produces cAMP that give a NEGATIVE FEEDBACK to Gs - Inactivating the cell.
Types of ENZYME COUPLED RECEPTORS	Tyrosine kinase R (many subfamilies, can't phosporilate their own tyrosine, MAKES DIMERS to phosp. EACH OTHER - Tyronsine Kinase Associated R - Serine / Threonine Kinase R.
Features of Serine/Threonine Kinase R	Two classes (Type I and Type II) The LIGAND bring Type I & II together, Type II phosphorilates Type I
Characteristics of GOLGI	Distribution center for PROTEINS and LIPIDS. Modifies N-Oligosaccharides on ASPARAGINE - Adds O-oligosachh on SERINE and THREONINE. Adds Mannose 6 P to LYSOSOMAL prot.
What is I - CELL DISEASE	INCLUSSION cell disease, MUCOLIPIDOSIS TYPE II - Defect in N- ACETYLGLUCOSAMINYL - 1 - PHOSPHOTRANSPHERASE Faliure of GOLGI to Phos. Manosse residues.
I - CELL DISEASE	Impaired phosphorilation of MANOSE / Enzymes are released into extracelular space / INCLUSION BODIES in the CELL / Lysosomal Hydrolase b Glucoronidase IN BLOOD (should be in FIBROBLAST)
I - CELL DISEASE features	Coarse facial features/ Gingival hiperplasia, macroglosia / Clubfoot / Claw hand / Scoliosis / Psicomotor Grow retardation / CARDIO RESPIRATORY failure (X.X 1st decade). MITRAL valve murmur Bone fractures & deformities
What is the function of SINGAN RECOGNITION PARTIGLE (SRP)	Cytosolic ribonucleoprotein that TRAFFICS POLYPEPTICE FROM CYTOSOL TO RER. Absent = Accumulation of PROTEIN in CYTOSOL.
What is the Cis and Trans parts of Golgi	Cis towadrs nucleus - Trans towards plasma membrane.
Which are the VESICULAR TRAFFICKING PROTEINS	COPI (Golgi to Golgi (RETROGRADE) - COP II (ER to cis Golgi ANTEROGRASE) CLATHRIN trans Golgi to Lysosomes, Plasma membrane, Endosomes.
What is PEROXISOME function	Beta oxidation of VeryLong FA - Alpha oxidation - Catabolism of Branched FA, Aa, Ethanol. Synthesis od CHOLESTEROL, Bile acids and Plasmalogens (Phospholipid in white matter brain)
Diseases associated to PEROXISOMES.	Zellweger syndrome - Refsum disease - Adrenoleukodystrophy
Features of ZELLWEGER Syndrome	Autosomal RECESSIVE - Mutated PEX genes, disorder on peroxisome biogenesis- HYPOTONIA - SEIZURES - HEPATOMEGALY - EARLY DEATH.
Features of REFSUM Disease	Autosomal RECESSIVE - Deffective Alpha Oxidation (Phytanic acid not metabolized to Pristanic acid) SCALY skin, ATAXIA, CATARACTS (night blindness) Short 4th TOE, EPIPHYSEAL dysplasia. TREAT: Dieat plasmapheresis.
Features of ADRENOLEUKODYSTROPHY	X-Linked Recessive. Mutated ABCD1 gene - Disorder of Beta oxidation: VLCFA builup in ADREAL glands, white matter of brain, testes. Adrena gland crisis, coma death .
What is PEROXISOME function	Protein complex tht DEGRADES DAMAGES OR UBIQUITIN TAGGED PROTEINS.
Disease associated with defects ind Proteasome - Ubiquitin	PARKINSON DISEASE
Types of filaments	Microfilamens - Intermediate filaments - Microtubules.
Function of MICROFILAMENTs	Muscle contraction - Cytokinesis ( ACTIN - MICROVILLI)
Function of INTERMEDIATE FILAMENTS.	Cell structure - VIMENTIN - DESMIN - CYTOKERATIN - LAMINS. Also extracellular matrix.
Types of INTERMEDIATE FILAMENS	Type I & II: KERATINS: Hair, nails, outer Skin. Type III (Vimentin, Desmin, Glial fibrillary acidic protein. Type IV: Synemin. Type V Lamins: Nuclear lamina around the nucleous. Type VI: Nestin.
Function of MICROTUBULES.	Movement - cell division - CILIA - FLAGELLA - MITOTIC SPINDLE - AXONAL TRAFFICKING - CENTRIOLES. (alpha and beta tubulin)
Drugs that act on MICROTUBULES:	(Microtubules Get Constructer Very Poorly) MEBENDAZOLE - GRISEOFULVIN - CONLCHICINE - VINCRISTINE/VINBLASTINE - PACLITAXEL
Molecular motor proteins od MICROTUBULES	Dynein (RETROGRADE to microtubule (+ -- -) Near the nucleus /// Kynesin (ANTEROGRADE to microtubule ( - -- +) Point periphery.
What is the CILIA STRUCTURE	Basal body: 9 microt. triplets / Body: 9 doublet + 2 single arrangement of mirotubules. AXONEMAL DYNEIN - ATPase that link peripheral 9 doubles. GAP junction : Coordinated movement.
Disease asossiated with CILIA structure	Kartagener Syndrome (1ry CILIARY DYSKINESIA)
Kartagener Syndrome Features	Autosomal RECESSIVE. Immotile cilia due to DYNEIN ARM DEFECT. (Dextrocardia, decreased fertility, + risk of ectopic pregnancy, bronchiectasis, chronic eat infection, sinositis, CONDUCTIVE hearing loss.
Screening test for Kartagener Syndrome	Decreased NASAL NITRIC OXIDE.
Characteristics of Na - K pump.	3 Na go OUT - 2 K come INTO cell
Drugs affecting N - K pump	Cardiac glycosides (DIGOXIN - DIGITOXIN) Inhibits Na-K ATPase indirec inhibits pump INCREASINF Ca = Increase Cardiac contractility. OUABAIN inhibits pump by binding to K+ site.
Types od Collagen	Be So Totally (I) Cool (II) Read (III) Books (IV)
Type I Collagen	Bone - Skin - Tendon. Most common 90% - Also Dentin - Fascina, Cornea, Late wound repair
Disease associated to Collagen type I defect	OSTEOGENESIS IMPERTECTA TYPE I
Type II Collagen	Cartwolage - Hyaline, vidreous body, nucleus pulposus.
Type III Collagen	Reticulin - Blood vessels, uterus, fetal tissue, granulation tissue.
Disease associated to Collagen type III defect	Ehlers Danlos Syndrome
Type IV Collagen	Basement membrane, lens.
Disease associated to Collagen type III defect	ALPORT Syndrome - And Collagen type IV is also targeted by autoantibodies in Goodpasture Syndrome.
Synthesis of Collagen	Gly-X-Y (Proline and Lysine) 1/2 Glycine/Hydroxilation with Vit C (SCURVY)/Glycosylation: of a pro alpha chain hydroxylysine residues =PROCOLLAGEN: Triple helix of 3 collagen alpha chains. Exocytosis. Proteolytic processing (Cleavage of disulfide rich terminal region = Insoluble TROPOCOLLAGE. Crosslinking: Covalen Lysine-Hydroxylysinne.
Problems forming procollagen (Triple Helix)	Osteogenesis imperfecta.
Problems forming TROPOCOLLAGEN (Triple Helix)	Ehlers Danlos Syndrome
Problems with Cross - Linking	Ehlers Danlos Syndrome & Menkes disease
OSTEOGENESIS IMPERTECTA	Brittle bone disease. Most common Autosomal DOMINANT. Gene deffect COL1A1 COL1A2.
OSTEOGENESIS IMPERTECTA Features	BITE: Bone: Multiple Fractures - I (eye) Blue sclerae - Teeth: Dental imperfection - Ear: Hearing Loss. TREAT: Bisphosphonates to Reduce Fracture Risk.
Features of EHLERS DANLOS Syndrome	Autosomal DOMINANT OR RECESSIVE. Joint dislocation, berry and aortic aneurysm, organ rupture, hyperextensible skin, hypermobile joints
Types of Ehlers Danlos Syndrome	Hypermobility type: Most common / Classical type: Joint and skin symptoms. Mutation in type V collagen (COL5A1-COL5A2) Vascular Type: Type III Procollagen (COL3A1) Fragille tissues including vessels.
Menkes disease:	X linked Reccesive - Defective MENKES Protein (ATP7A) impaired coppler absortion and trasnport. L activity of LYSYL OXIDASE (Copper a cofactor) Brittle, kynki hait, growth retardation, hypotonia.
Mutated ATP7B gene is correlated with	WILSON DISEASE.
ELASTIN Characteristics:	Rich in NONhydroxylated PROLINE- GLYCINE - LYSINE (Collagen hydroxilated). Broken down by ELASTASE (inhibited by ALPHA 1 - ANTITRYPSIN.
Alpha 1 ANTITRYPSIN Deficiency	UNOPPOSED ELASTASE ACTIVITY - EMPHYSEMA.
MARFAN SYNDROME	Autosomal DOMINANT - FBN1 gene mutation in chromosome 15 - Defective FIBRILIN.
Marfan syndrome features	Pectus carinatum (more specific) - CYSTIC MEDIAL necrosis of aoirta - AORTIC incompetence - DISSECTIV AORTIC aneurysm - MITRAL valve prolapse - SUBLUXATION od lenses (up and temp)
Homocystinuria subluxation of lens	Down and medially.
What is PCR	To amplify fragments of DNA. 1. DENATURATION (Heated 95°C) 2. ANNEALING (Cooled 55°c, + Primes + DNA polymerase + dNTPs) 3. ELONGATION (Tem 72°C DNA polymerase works)
What is Reverse transcriptase PCR	Detects and quantfies mRNA levels in a sample, and creates its complementry NA.
DNA Cloning	Copyng and specific part in DNA - put inside a PLASMI - Digesting DNA + Gene of ATB resistance.
What is CRISPR/Cas9	Genome editing tool derived from bacteria. Guide RNA (gRNA) complementary to a target DNA seq - Break imperfectly repaird by NON homologous end jjoining - Frameshift mutation - Donor sequence added to fill the GAP.
What are the Blotting Procedures	Souther - Northern - Western - Southwestern
SOUTHERN BLOT Characteristics	1. DNA sample cleaved - electrophoresis - Radiolabaled DNA recognizes complementary strand.
NORTHERN BLOT Characteristics	RNA sample
WESTERN BLOT Characteristics	Protein and antibody complex
SOUTHWESTERN BLOT Characteristics	Identifies DNA binding proteins (c - Jun, d- Fos (Leucine zipper motif)
What is a FLOW CYTOMETRY	Asses SIZE - GRANULARITY - PROTEIN EXPRESSION (IMMUNOPHANOTYPE) of cells in a sample.
FLOW CYTOMETRY PROCESS	Cell tagget w/ AB specific to surface or intracelular proteins //7 AB then tagged w/ unique fluorescent dye. Sample analizes 1 cell at the time. Data are plotted as histogram or scatter plo.
Uses of FLOW CITOMETRY	Hematologic abnormalities: LEUKEMIA - PAROXIMAL NOCTURAL HEMOGLOBINURIA, FETAL RBC IN MOTHER'S BLOOK AND INMMUNODEFICIENCIAS E. HIV.
What is a MICROARRAY	Thousand of nucleic acid sequences are arranged in grids on glas or silicon. DNA or RNA probes are hycridized to the chip an a Scanner detects the relativa amounts of complementary binding.
Uses of MICROARRAYS	To profile gene expression leves od thousand of genes simultaneously. Detet SNP (Single Nts Polymorphism and Copi numberr variations (CNVs) -Genotyping - Clinical genetic testing - Forensic analysis - Cancer mutation - Genetic linkage.
What is Enzyme linked immunosorbent assay	Detect the presence of either a SPECIFIC ANTGEN OR ANTIBODY in a patient's blood sample. It uses an AB linked to an enzyme. Add substrate that react w/ the Ez = Detectble signal. L Specific than Western Blot.
What is Karyotyping	Colchicine is added to culture cells to HALT chr. in METAPHASE. Can be performed in Blood, bone marroe, Amniotic fluid, Placental tissue
What is FLUORESCENTE IN SITU HYBRIDIZATION.	Fluorescent DNA or RNA probe binds to specific gene site of interest on chromosomes. Specific localization of genes and direct visualizaation of anomalies. MICRODELETION - TRANSLOCATION - DUPLICATION
What is MOLECULAR CLONING	Production of recombinant DNA molecules in a bacterial host.
MOLEUCLAR CLONING STEPS	1. Isolate mRNA (post processing) + Reverse trasncriptase = Complementary DNA (w/out INTRONS) put it on a bacterial plasmid that contain ATB resistance genes. Insert plasmid into a bacteria. Cultive
What are the GENE EXPRESSION MODIICATIONS	Transgenic strategies in mice : Random insertion of genes (Constitutive espression) / Targeted insertion or deletion of gene through homologous recombination w/ mouse gene (Conditional expression)
What is the CRE - LOX SYSTEM	Can inducibly manipulate genes an specific developmental points
What is RNA interference	dsRNA complementary to the mRNA of interes is synthetized. Transfected into human cells, dsRNA separates and promotes degradation of target mRNA "KNOKING DOWN" gene expression.
What is CODOMINANCE	Both alleles contribute to the phenotype. BLOOD GROUPS / Alpha 1 antitrypsin deficiency / HLA groups.
What is VARIABLE EXPRESSIVITY	Patients with same genotype have varying phenotypes. (Neurofibromatosis Type 1 - Severity of the disease)
What is INCOMPLETE PENETRANCE	Not all individuals with a mutant genotype show the mutant phenotype. % Penetrance x Probability of inheriting the phenotype = Risk of expressing phenotype. (BCRA1 gene mutation do not always result in Breast or Ovarian Ca.
What is PLEIOTROPY	A gene contributes to multiple phenotypic effects.
What is ANTICIPATION	Increased severity or eirlier onset of disease in succeeding generations. TRINUCLEOTIDE REPEAT DISEASES.
What is LOSS OF HETEROZYGOSITY	If a patien inherits or develops a mutation in a TUMOR SUPPRESSOR GENE, the complementary allele must be deleted/mutated before cancer develops. NOT TRUE OF ONCOGENES. (Retinoblastoma and the "two hit hypothesis" Lynch syndrome - Li fraumeni syndrome.
What is DOMINANT NEGATIVE MUTATION	A heterozygote produces a nonfunctional altered protein that also prevents the NORMAL gene product from functioning. MUTATION OF TRASNCRIPTION FACTOR IN ITS ALLOSTERIC SITE -
What is LINKAGE DISEQUILIBRIUM	Tendency for certain alleles at 2 linked loci to occur together MORE OR LESS OFTEN THAN EXPECTED BY CHANCE. In population NO in FAMILIES.
HARDY WEIDEMBURG THEORY	State of balance in a population the FREQ. of RECCESIVE & DOMINANT remains the same. Factors that chance ir: NATURAL SELECTION - MUTATION - MIGRATION - SIZE OF POPILATION (Genetic drift)
Hardy Weidemburg Calculation	(P)2 + 2PQ + (Q)2 = 1 /// X-Linked reccesive disease: Males = q Females = (q)2
Hardy Weidemburg Assumptions:	No mutation occurring at the locus, Natural selection is not ocurring, Completely random mating, No net migration.
What is MOSAICISM	Distinct cell lines in the same individual. SOMATIC (mitotic errors after fertilization) & GONADAL.(Onlyegg or sperm error. Parents and relatives do not have the disease) /
What is LOCUS HETEROGENEITY	Mutations on different loci can produce similar phenotype. (ALBINISM)
What is ALLELIC HETEROGENEITY	Different mutations in the same locus produce the same Phenoype (BETA THALASSEMIA)
What is HETEROPLASMY	Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrially inherited disease.
What is UNIPARENTAL DISOMY	Offspring recieves 2 copies of a chromosome from 1 parent and no copies from the other parent. HETEROD1SOMY (Heterozygous = Meiosis 1 error) 1SOD1SOMY ( Homozygous = Meiosis 11 error)
What is IMPRINTING	One gene copy is silenced by METHYLATION and only the other copy is expressed. PARENT ORIGIN EFFECTS.
What is Prader - Willi Syndrome	Maternally genes are SILENCED - Disease whan only PATERNAL allele is deleted or mutated (Chromosome 15). 25% cases are due to Maternal uniparental disomy**
What are Prader Willi Syndrome Features	Hyperphagia - Obesity - Intellectual disability - Hypogonadism - Hypotonia - Almond shape eyes. Prader has no Papa (Paternal Deletion) (L: Growth hormone / Gonadotropine)
Prader Willi diagnosis?	Chromosomal or microarray analysis.
What is Angelman Syndrome	Paternally UBE3A gene is SILENCED - Disease when only MATERNAL allele is deleted or mutated. (Chromosome 15 mutation or deletion of the UBE3A)
What are Angelman Syndrome Features	Inappropriate laughter "Happy puppet" / Seizures - Atacia - Severe intellectual disability - Large mandible. 5% Cases due to paternal uniparental disomy.
Diseases that predispose patients to intracranial berry aneurysms.	Connective tissue disorders (Ehlers Danlos - Marfan) & Autosomal dominant policystic kidney disease.
What is COSTELLO syndrome	Autosomal dominant - Mutated H - Ras gene (Oncogene controls cell growth and division) (Chromosome 11). Loose stretchy skin - soft deep wrinkles, curly sparse hay and Thickener or darkened skin. - Short - feeding difficulties - developmental delays - hearth defect
Characteristics of AUTOSOMAL DOMINANT inheritance	Defects in structural genes - MALES & FEMALES affected. One affecten = 1/2 of children affected. PLEIOTROPIC - Multiple apparently unrelated effects.
Characteristics of AUTOSOMAL RECESSIVE inheritance	Heterozygous affected = 1/4 children affected. 1/2 Carriers / Often ENZYME deficiencies - Usually seen only in 1 generation - H: Risk with consanguineous / UNAFFECTED INDIVIDUALW WITH AFFECTED SIBLING HAS 2/3 probabiliti of being a CARRIER.
Characteristics of X - LINKED RECESSIVE inheritance	SONs of Heterozygous mothers have 50% chance of being affected. NO MALE TO MALE transmission. Skips genertions. MORE severe in MALES. Females usually must be HOMOZUGOUS to be affected.
Characteristics of X - LINKED DOMINANT inheritance	Transmitted throught BOTH parents. Mothers transmit to 50% of daughters and sons. Fathers transmit to all doughters but NO SONS.
What diseases are X - LINKED DOMINANT	HYPOPHOSPHATEMIC RICKETS also known as Vitamin D- Resistant Rickets. INCREASED PHOSPHATE WASTING AT PROXIMAL TUBULE. Also - Fragile X Syndrome - Alport Syndrome.
Characteristics of MITOCHONDRIAL inheritance	Only throught the mother. ALL offspring of affected females MAY SHOW SIGNS of disease. HETEROPLASMY: Variable expression in a population or a family.
What Diseases have Mitochondrial inheritance	MITOCHONDRIAL MYOPATHIES: Myopathy, lactic acidosis & CNS disease. (MELAS syndrome) LEBER HEREDIRATY OPTIC NEUROPATHY.
What is MELAS Syndrome	Mitochondrial encephalomyopathy, Lactic acidosis, Stroke like episodes, 2ry to FAILURE IN OXIDATIVE PHOSPHORYLATION. Muscle BIOPSY "Ragged red fibers"
What is Leber hereditary optic neuropathy.	Cell death in OPTIC NERVE NEURONS - Subacute bilateral vision loss in TEENS / YOUNG ADULT 90% MALES. Usually permanent.
AUTOSOMAL DOMINANT DISEASES	Achondroplasia, autosomal dominant polycystic kidney disease, familialadenomatous polyposis, familial hypercholesterolemia, hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome), hereditaryspherocytosis, IIuntington disease, Li-Fraumenisyndrome, Marfan syndrome, multiple endocrine neoplasias, myotonic muscular dystrophy, neurofibromatosis type I (von Recklinghausen disease), neurofibromatosis type 2, tuberous sclerosis, von IIippel-Lindau disease.
AUTOSOMAL RECESSIVE DISEASES.	Albinism, autosomal recessive polycystic kidney disease (ARPKD), cystic fibrosis, Friedreich ataxia, glycogen storage diseases, hemochromatosis, Kartagener syndrome, mucopolysaccharidoses (except IIunter syndrome), phenylketonuria, sickle cell anemia, sphingolipidoses (except Fabry disease), thalassemias, Wilson disease.
What is Cystic Fibrosis	Autosomal RECESSIVE defect in CFTR gene in Chromosome 7. Deletion of PHE508. Most common lethal genetic disease in Caucasians.
Why is it important CFTR gene?	CFTR encodes an ATP gated Cl - channel that secretes Cl- in LUNGs and GI tract, and reabsorbs Cl- in sweat glands. MISFOLDED PROTEIN, Retained in RER and not transported to cell membrane
Consequences of CFTR mutation.	L Cl- and (H2O) Secretion; H: INTRACELLULAR CL- = Compensatory H: Na + reabsorption vìa epithelial NA + Channels = H: H2O reabsortion = Abnormally THICK MUCOS SECRETED INTO LUNGS AND GI TRACK. Na+ reab causes MORE NEGATIVE transepithelial potential difference.
How do you diagnose Cystic Fibrosis ?	HIGH Cl- concentration in pILOCAPINE INDUCED SWEAT TEST (<60). Can present with contraction, ALKALOSIS AND HYPOKALEMIA. H: Immunoreactive trypsinogen (Newborn screening).
What are the complications of suffering from CF	Recurrent pulmonary infections. S. Aureus, P. Aurefinosa - Chronic bronchitis ansd Bronchiectasis - RETICULONODULAR pattern on CxR.
What are the complications of suffering from CF	Pancreatic insufficiency - Malabsorption - Steatorrhea - Fat soluble vitamin deficiencies - Biliary cirrhosis - Liver disease - Meconium ileus.
What are the complications of suffering from CF	Infertility in MEN and SUBfertility in Women. - Nasal polips.
What is Cystic Fibrosis TREATMENT	Chest physiotheraphy - Albuterol - DNase - Hypertonic saline facilitate mucus clearance - AZITHROMYCIN used as anti inflammatory agent. LUMACAFLOR (Correct misfolded proteins and improves their transport to cell surface) & IVICAFLOR (Opens Cl- channels IMPRUVING its transport.
What doues CFTR gene stands for?	Cystic Fibrosis Transmembrane Regulator gene.
Hypersensitive response associated with CF and ASTHMA	(Fungal infection) Allergic bronchopulmonary aspergillosis.
What is DORNASE ALFA used for in CF.	Recombinant human enzyme derivative used to clear the leukocytic debris in thick mucous secretions.
What is N- Acetylcysteine used for in CF	To cleave the disulfide bonds in mucus glycoproteins, and thereby loosen mucus plugs, LIMITED USE.
Other agents causing Pneumonia in CF.	Burkholderia cepacia is a gram negative rod which is oxidase positive, catalase positive, and does not ferment lactose. B. cepacia is a cause of pneumonia in cystic fibrosis patients.
Diseases associated to each of ADEK vitamins.	A: D: Rickets E: Hemolytic anemia K:
X - LINKED RECESSIVE DISORDERS.	Ornithine transcarbamylase deficiency, Fabry disease, Wiskott-Aldrich syndrome, Ocular albinism, C6PD deficiency, Hunter syndrome, Bruton agammaglobulinemia, Hemophilia Aand B,Lesch-Nyhansyndrome,Duchenne (and Becker) muscular dystrophy. X-inactivation (lyonization)- one copy of fema e X chromosome forms a transcriptionally inactive Barr body. Female carriers variably affected depending on the pattern of inactivation of the X chromosome carrying the mutant vs normalgene
What could be the model of inheritance of a WOMAN with TURNER syndrome	X - Linked recessive disorder.
Mnemotecnia	Oblivious Female Will Often Give Iler Boys Iler x-Linked D isorders
Which are the MUSCULAR DYSTROPHIES	Duchenne - Becker - Myotonic Type 1 - Rett syndrome
What is Duchenne muscular dystrophy.	X - linked RECESSIVE disorder - FRAMESHIFT deletion or NONSENSE mutation - Truncated or absent (Deleted dystrophin gene: DMD ) DYSTROPHIN protein = Progressive myofiber damage. ONSET before 5.
Consequences DMD gene mutation	DMD codes for the largest protein human gene - Dystrophin anchors muscle fibers in skeletal and cardiac muscle - Connects citoskeleton to transmembrane proteins = Myonecrosis = H: CK & ALDOLASE. Genetic testing confirms dx.
Duchenne Muscular Dystrophy features	Weakness begins in pelvic girdle muscles and progress superiorly - Pseudohyperthrophy of CALF muscles due to fibrofatty replacement of muscles. Waddling gait.
Common cause of death of Duchennes MD	Dilated cardiomyopathy.
What is the Gowers sing	Patient uses upper extremities to help stand up.
What is Becker muscular dystrophy.	NON frameshift deletion in DYSTROPHIN gene. Less severe than duchene - Onset in adolescence or early aldulthood. X Linked RECESSIVE
What is Myotonic type 1.	AUTOSOMAL DOMINANT. CTG trinucleotide repeat expansion in the DMPL gene - Abnormal expression of myotonin protein kinase = MYOTONIA
Myotonic type 1 clinical features	Myotonia - Muscle wasting - Cataract - Testicular atrophy - Frontal balding - Arrythmia - Gonadal atrophy. Na channel blocker for symptoms (MEXILETINE) 50 - 1000 TRE (Normal < 30)
What is Rett syndrome	Sporadic - Almost exclusively in girls (Males die in utero or shortly after bitrh) DE NOVO MUT OF MECP2 on X chromosome.
Rett syndrome features	Between ages 1-4: RETTurn (Regression) in MOTOR, verbal and cognitive abilities - Ataxia - Seizures - Growth failure - Stereotyped hand - wringing.
What is FRAGILE X SYNDROME	X linked DOMINANT - Trinucleotid RE in FMR1 gene (FMR1 protein helps in development of brain and other organs - ) = Hypermethylation = L Expression. MOST COMMON CAUSE of inherited intellectual disability and SECOND MOST COMON cause of genetically associated mental deficiency (1st Down)
Which diseases are associated with TRINUCLEOTIDE REPEAT EXPANSION	Huntington disease - Myotonic dystrophy - Fragile X syndrome - Friecreich Ataxia
Mnemotecnia for TRE diseases	Try (trinucleotide) hunting for my fragile cage- free eggs (X).
Fragile X Syndrome features	Post pubertal macroorchidism - Long face with Large Jaw - Large everted ears - AUTISM - Mitral valve prolapse (CGG)n during Oogenesis. Normal: 5 - 44 / Intermediate 45 - 54 / Premutation 55 - 200 / Full mutation > 200
Trinucleotide repeat for HUNTIGTON DISEASE	CAG n - A. Dominant - Caudate has L Ach and GABA.
Trinucleotide repeat for MYOTONIC DYSTROPHY	CTG n - A. Dominant - Cataract - Toupee - Gonadal atophy.
Trinucleotide repeat for FRAGILE X SYNDROME	CGG n - X linked - Chin protruding - Giant Gonads.
Trinucleotide repeat for FRIEDREICH ATAXIA	GAA n - A. Recessive - Ataxic GAAit
Which are the most common AUTOSOMAL TRISOMIES	Down syndrome / Edwards syndrome / Patau Syndrome
What is DOWN SYNDROME	Trisomy 21 / INCIDENCE 1:700 Most common viable chromosomal disorder - most common cause of genetic intellectual disability.
Down Syndrome Features	Intellectual disability - Flat facies - Epicanthal fols - Single palmar crease - Incurved 5th finger - Duodenal atresia - HIRSCHPRUNG disease - Congenital heart diseas (Atrioventricular septal defect) - Brushfield spots.
Down Syndrome Features	Gap between 1st 2 toes - Early onset Alzheimer disease (Amiloid precursor protein in chrom 21) - H Risk for ALL and AML.
Down Syndrome Etiology	95% Meiotic NON disjunction (MATERNAL) ( H with maternal age: 1:25 women > 45) 4% Cases due to Unbalanced Robertsonian trasnlocation (14/21) Only 1% Cases due to POSTfertilization mitotic error. (Mosaic <1% cases)
Diagnosis od Down Syndrome in utero	H Nuchal traslucency - Hypoplasic nasal bone - / Markers HI : H hCG - H: Inhibin.
The 5 A of Down Syndrome	Advanced maternal age - Atresia (duodenal) - Atriovetricular septal defect - Alzheimer disease - AML / ALL
What is Edwards Syndrome	Trisomy 18 / INCIDENCE 1:8000 / - Second most common autosomal trisomy resulting in live birth.
Edwards Syndrome Features	PRINCE Edwards : Prominent Occipud - Rocker - bottom feet - Intellectual disability - Nondisjunction - Clenched fist (w/ overlapping fingers) low set Earts / Micrognaria - Congenital heart diseas - Onphalocele - X.X 1 year. H: risk for Neuroblastoma & Hepatoblastoma. - Horseshoe kidneys.
What is PATAU syndrome	Trisomy 13 / INCIDENCE 1: 15000 // Non disjunction / Robertsonian translocation 13 + Achrocentric Chromo. / Mosaic < 1% patient
Patau Syndrome Features	Severe intellectual disability - Rocker bottom feet - Michophthalmia - Microcephaly - Cleft Lip/Palate - Holoproencephaly - Polydactyly - Cutis Aplasia - Cogenital heart disease - Polycystic kidney disease - Omphalocle. X.X 1 year.
Risk for patau Syndrome:	Advanced maternal age - Family history.
Fist trimester screenning for what trisomies, What is evaluated?	21 18 13 - Beta hCG & PAPP-A
Trisomy 21 findings during first trimester	H: bHCG L: PAPP-A
Trisomy 18 findings during first trimester	L: bhCG & PAPPA-A
Trisomy 13 findings during first trimester	L: bhCG & PAPPA-A
Second trimester screenning for what trisomies, What is evaluated?	21 - 18 - 13 // B- hCG - Inhibin A - Estriol - AFP
Trisomy 21 findings during second trimester	H: bhCG & Inhibin A // L: Estrio & AFP.
Trisomy 18 findings during second trimester	L: bhCG - Estrio - AFP // Normal or L: Inhibin A.
Trisomy 13 findings during second trimester	Everything is normal.
Genetis disorders associated to chromosome 3	von Hippel - Lindau / Renal cell carcinoma
Genetis disorders associated to chromosome 4	ADPKD /PKD2) - Achondroplasia / Hungtington disease.
Genetis disorders associated to chromosome 5	Cri - du - chat syndrome / Familial adenomatous polyposis.
What is CRI - DU - CHAT Syndrome	Deletion of short arm of chromosome 5 - 46XX/XY 5p-)
Cry-du-chat Syndrome Features	Microcephaly - Moderate to severe intellectual disability - High pitched Crying - Meowing - Epicanthal folds - Cardiac abnormalities (Ventricular Septal Defect (VSD))
Genetis disorders associated to chromosome 6	Hemochromatosis (HFE)
Genetis disorders associated to chromosome 7	Williams syndrome - Cystic fibrosis
Genetis disorders associated to chromosome 9	Friecreich Ataxia - Tuberous sclerosis (TSC1)
Genetis disorders associated to chromosome 11	Wilms tumor - B Globin gene defectis (Sickle cell disease, B- Thalassemia, MEN1.
Genetis disorders associated to chromosome 13	Patau Syndrome - Wilson disease - RETINOBLASTOMA RB1 - BRCA2
Genetis disorders associated to chromosome 15	Prader Willi Syndrome - Angelman Syndrome - Marfan Syndrome.
Genetis disorders associated to chromosome 16	ADPKD / PKD1) - Alpha globin gene defects ( alfa thalassemia) - Tuberous sclerosis (TSC2)
Genetis disorders associated to chromosome 17	Neurofibromatosis type 1 - BRCA1 - TP53
Genetis disorders associated to chromosome 18	Edwards Syndrome
Genetis disorders associated to chromosome 21	Down Syndrome
Genetis disorders associated to chromosome 22	Neurofibromatosis type 2 - DiGeorge Syndrome (22q11)
Genetis disorders associated to chromosome X	Fragile X Syndrome - X - linked agammaglobulinemia - Klinefelter Syndrome (XXY)
What is a Robertsonian Translocation:	Commonly involves chromosome pairs: 13 - 14 - 15 - 21 - 22 / One of the most common: Long arms of 2 ACROCENTRIC chromosomes fuse at the centromere and the 2 short arms are lost.
What kinds of Robertsonian Translication there are ?	Unbalanced: Misscarriage - Stillbirth - Chromosomal inbalance (Syndromes) - Balanced: Do not cause any abnormal phenotype.
What is WILLIAMS SYNDROME	Congenital MICRODELETION of LONG arm of chromosome 7 (Region includes ELASTIN GENE) "ELFIN facies"
Williams Syndrome Features	Intellectual disability - Hypercalcemia - Well developed vrbal skills - Extreme frienliness with strangers - Cardiovascular problems (Supravalvular AORTIC STENOSIS) RENAL ARTERI STENOSIS.
Which are FAT soluble vitamins	A D E K
Characteristics od FAT soluble vitamins	Dependent on gut and pancreas absorption. Toxicity is more common than water solibre vitamins. Fat accumulate in fat.
What kind of diseases can cause fat solibre vitamine deficiencies	Malabsorption syndromes ( Steatorrhea cystis fibrosis - Celiac disease ) - Mineral oil intake.
Which Vitamins are Water soluble	B1 (Thiamine: TPP) B2 (Riboflavin FAD - FMN) B3 (Niacin: NAD+) B5 (Pantothenic acid: CoA) B6 (Pyridoxine PLP) B7 (Biotin) B12 (Cobalamin) C (Ascorbic acid).
Water solible vitamins characteristics.	All wash out easily from body except B12 and B9 (Folate). B12 stored in liver for 3 -4 years. B9 stored in liver for 3 - 4 months. Coenzymes (Ascorbic acid) - or precursors (FAD - NAD+)
B complex deficiencies	Dermatitis - Glossitis & Diarrhea.
Whats the name of Vitamin A	RETINOL
Whats is Vitamin A function?	Antioxidant - Retinal (Visual pigment) - Essencial for differention of epithelial cells into specialized cells (Pancreatic - mucus secretin cells) - PREVENT SCUAMOUS METALPLASIA.
What is Vitamin A used for ?	Treat MEASLES and ACUTE PROMYELOCYTIC LEUKEMIA (APL) - TOPICAL for Wrinkles ans ACNE.
Where is Vitamin A found ?	Foun in LIVER and LEAFY VEGETABLES
What disease is associated with Vitamin A DEFICIENCY	NIGHT BLINDNESS (Nyctalopia) - Dry, Scaly skin (Xerosis cutis) - Corneal Scamous metaplasia - BITOT SPOTS (Conjunctiva) Corneal defeneration (KERATOMALACIA) - Immunosuppression.
What disease is associated with Vitamin A EXCESS	Acute & Chronic Toxicity.
Acute toxicity with Vitamin A	Nausea - Vomiting - Vertigo & Blurred vission
Chronic toxicity with Vitamin A	ALOPECIA - Dry skin (Scaliness) - Hepatic toxicity and enlargement - Arthralgias - Idiopathic intracraneal hypertension.
What Teratogenic effects are associated to Vit A consumption.	Cleft Palate - Cardiac abnormalities - DO NOT USE DURING PREGNANCY - Two forms of contraception are required before ISOTRETINOIN in precribed.
What is the name of Vitamin B1	Thiamine
Whats is Vitamin B1 function?	Thiamine Pyrophosphate TPP - COFACTOR FOR SEVERAL DEHYDROGENASES ENZYMES REACTION.
What ENZYMES use TPP	Be APT - Branched-chain KETOACID DEHYDROGENASE / Alpha - Ketoglutarate DEHYDROGENASE (TCA Cycle) / Pyruvate DEHYDROGENASE (Links glycolisis to TCA cycle) / TRANSKETOLASE (HMP Shunt).
What disease is associated with Vitamin B1 DEFICIENCY	BERI BERI (Dry and Wet) // Impaires GLUCOSE BREAKDOWN = ATP depletion worsened by glucose infusion; highly aerobic tissues are affected first BRAIN, HEART.
Diagnosis of Vitamin B1 deficiency?	Increase in RBC TRANSKETOLASE ACTIVITY after Thiamine administration.
What is the job of thiamine in ALCOHOLIC OR MALNOURISHED PATIENTS.	Give first Thiamine before DEXTROSE to L: risk of precipitating WERNICKE encephalopathy.
What is WERNICKE KORSAKOFF SYNDROME	Confusion - Opthalmoplegia - Ataxia (Classic triada) + CONFABULATION - change in personality - Memory loss (permanent)
What part of brain is related with Wernicke Korsakoff Syndrome ?	Damage to MEDIAL - DORSAL nucleus of thalamus - Mammilary bodies (Necrosis and Hemorrage).
Diagnosis or Wernicke Korsakoff Syndrome	Blood test: Liver function test - Thiamine level - TAC tto evaluatre mamilary bodies.
What is DRY BERI BERI ?	Polyneuropathy - Symmetrical muscle wasting.
What is WET BERI BERI ?	High output cardiac failure (Dilated cardiomyopathy), Edema.
What is the name of Vitamin B2	Rivoflabin
What is the function of VITAMIN B2	Component of flavins FAD and FMN - COFACTORS - in redox reaction. (B2 =* 2ATPs)
What disease is associated with VITAMIN B2	CHEILOSIS (Inflammation of lips, scaling and fissures at the corners of the mouth) Corneal vascularization. "The 2C's of B2"
What is the name of Vitamin B3	Niacin.
What is Vitamin B3 function	Constituent of NAD+ & NADP+ (REDOX Reactions) Derived from TRYPTOPHAN. Its synthesis REQUIRES Vit B2 - B6. B=* 3ATPs.
What disease is associated with VITAMIN B3 DEFICIENCY	GLOSSITIS. PELLAGRA ( 3D's Diarrhea - Dementia (hallucinations) - Dermatitis (C3/C4 Broad collar) - Hyperpigmentarion of SUN exposed limbs.
What diseases are associated with PELLAGRA	HARTNUP DISEASE - MALIGNANT CARCINOID SYNDROME ( H Tryptophan metabolism) - ISONIAZID ( Decrease vit B6)
What is Hartnup disease	(Aut. RECESSIVE/ Deficiency NEUTRAL Aa transporters in proximal renal tubular cells and on enterocytes = Neutral Aminoaciduria & L absorption of TRYPTOPHAN in hgut for convertion to niacin = Pellagra Like Symptoms)
What disease is associated with VITAMIN B3 EXCESS	PODAGRA - FACIAL FLUSHING (Induced by PROSTAGLANDIN, not HISTAMINE - Aviod by taking aspirin with niacin) - HYPERGLYCEMIA - HYPERURICEMIA.
What is the name of Vitamin B5	Pantothenic Acid.
What is Vitamin B5 Function ?	Essential component of Coenzyme A and Fatty Acid synthase. B5=Pento theni acid.
What disease is associated with Vitamin B5 DEFICIENCY	Dermatitis - Enteritis - Alopecia - Adrenal Insufficiency.
What is the name of Vitamin B6	Pyridoxine.
What is Vitamin B6 function?	Pyridoxine is converted in PYRIDOXAL PHOSPHATE (PLP) a cofactor used in TRANSAMINATION (AST - ALT) DECARBOXYLATION REATION - GLUCOGEN PHOSPHORYLASE. Synthesis of: Cystathionine - Heme - Niacin - Histamine - NT (Serotonin - Epinephrine - NE - Dopamine - GABA )
What disease is associated with Vitmine B6 DEFICIENCY	Convulsions - Hyperirritability - Peripheral neuropathy ( INDUCED BY ISONIAZYD AND ORAL CONTRACEPTIVES) - Sideroblastic anemia (Imparied hemoglobin synthesis and iron excess)
What is the name of Vitamin B7	Biotin
What is Biotin function ?	COFACTOR for CARBOXYLATION ENZYMES: Pyruvate carboxylase: (From pyruvate to oxaloacetate) // Acetyl-CoA carboxylase: (From Acetyl-CoA to Malonyl CoA) // Propionyl CoA carboxylase - (From propionyl CoA to Methilmalonyl CoA)
What disease is associated with Vitamin B7 DEFICIENCY	RARE - Dermatitis - Enteritis - Alopecia (LONG TERM ANTIBIOTIC OR EXCESSIVE INGESTION OR FAW EGG WITHES
What is the name of Vitamin B9	Folate
What is Vitamin B9 function?	Converted to TETRAHYDROFOLIC ACID (THF) a COENZYME for 1 carbon transfer/methylation reactions. Important for the synthesis of Nitrogenous bases in DNA and RNA.
Where is Vitamin B9 found ?	Leafy green vegetables - Absorbed in JEJUNUM. Small pool stored primarily in LIVER.
What disease is associated with Vitamin B9 DEFICIENCY	MACROCYTIC - MEGALOBLASTIC ANEMIA - Hypersegmented PMN - GLOSSITIS (No neurologic symptoms different from B12 def)
How to diagnose Vitamin B9 Deficiency?	H: Homocysteine - Normal methylmalonic acid - IN ALCOHOLISM AND PREGNANCY.
What drugs can cause B9 Deficiency	PHENYTOIN - SULFONAMIDES - METHOTREXATE.
What is the name of Vitamin B12	Cobalamin.
What is Vitamin B12 function?	COFACTOR for Methionine Synthese (Transfers CH3 groups as methylcobalamin) and Methylmalonyl CoA mutase: IMPORTANT FOR DNA SYNTHESIS. Founf in ANIMAL PRODUCTS. Very large reserve pool in liver.
What disease is associated with Vitamin B12 DEFICIENCY	MACROCYTIC - MEGALOBLASTIC ANEMIA - Hypersegmented PMN + PARESTHESIAS and subacute combined degeneration (DORSAL COLUMNS - LATERAL AN CORTICOSPINAL TRACTS AND SPINOCEREBELLAR TRACT) due to abnormal MYELIN. Prolonged def (IRREVERSIBLE nerve damage)
What causes Vitamin B12 DEFICIENCY ?	MALABSORPTION (Sprue - Enteritis - Diphyllobothrium latum - Achlorhydria - Bacterial overgrowth - Alcohol excesss) LACK OF INTRINSIC FACTOR (Pernicious anemia - Gastric bypass surgery) ABSENCE OF TERMINAL ILEUM (Surgical resection) DRUGS (Metformin) VEGANISM.
How do you diagnose PERNICIOUS ANEMIA ?	Anti intrinsic factor antibodies.
What treatment is related with mascaring B12 sympthoms	Folate - Mask everything BUT NEUROLOGIC SYMPTOMS.
What is the name of Vitamin C	Ascorbic Acid.
What is Vitamin C Function?	ANTIOXIDANT - Also facilitates IRON absorption . Necessary for HYDROXYLATION of PROLINE AND LYSINE in collagen synthessis. Necessary for DOPAMINE B-HYDROXYLASE - (Dopamine to NE)
Where is Vitamin C founded?	Fruits and vegetables
What is Vitamin C used for?	For treatment of METHEMOGLOBINEMIA by recuding Fe+3 to Fe +2.
What disease is associated with Vitamin C DEFICIENCY?	SCURVY
What are SCURVY features?	Swollen (Collagen synthesis defect) GUMS - Easy bruising - Petechiae - Hemarthrosis - Anemia - Poor wound healing - Perifollicular and Subperiosteal Hemorrages "Corkscrew) hair - Weakened immune response
What disease is associated with Vitamin C EXCESS?	Nausea - Vomiting - Diarrhea - Fatigue - CALCIUM OXALATE NEPHROLITHIASIS. Can INCREASE IRON TOXICITY in predisposed individual by increasing dietary iron absorption. (WORSEN HEREDITARY HEMOCHROMATOSIS)
What is the name of Vitamin D	D3 (Cholecalciferol) from sun exposure. D2 (Ergocalciferol) ingestion of - fish - milk - plants. BOTH converted to 25-OH D3 - In LIVER to the active form 1,25 (OH)2 - D3 CALCITRIOL.
What is Vitamin D function?	INCREASE: Intestinal absorption of Ca +2 and PO4- // Bone mineralization at low levels & resorption at higher levels.
How REGULATES Vitamin D ?	H: PTH & L: Ca & PO4 = INCREASE in CALCITRIOL production. Withi FEEDBACK INHIBITS its own production. H PTH: H Ca reabsorption and L: PO4 reabsorption in the kidney.
What disease is associated with Vitamin D DEFICIENCY ?	RICKETS - children - Deformity. OSTEOMALACIA in Adults - BONE PAIN and WEAKNESS - HYPOCALCEMIC TETANY. // Deficiency is exacerbated by pigmented skin and premature birth,
What diseases cause Vitamin D DEFICIENCY?	MALABSORPTION - L SUN exposure - Poor diet - Chronic Kidney Disease (CKD) Advanced LIVER Disease.
What diseases are associated with Vitamin D EXCESS ?	Hypercalcemia - Hypercalciuria - Loss of appetite - Stupor - (SEEN IN GRANULOMATOUS DISEASES)
What is Vitamin E name?	Tocopherol - Tocotrienol.
What is Vitamin E function?	ANTIOXIDANT (Protects RBC from free radical damage)
What disease is associated with Vitamin E DEFICIENCY ?	HEMOLYTIC ANEMIA - Acanthocytosis - muscle weakness - demyelination of POSTERIOR COLUMNS ( Decrease in POSITION AND VIBRATION sensation) & SPINOCERENELLAR TRACT (Ataxia)
Hemolytic anemia seconday to Vitamin E Deficiency features	Same presentation as Vitamine B12 BUT WITHOUT Megaloblastic anemia
What disease is associated with Vitamin E EXCESS ?	Risk of ENTEROCOLITIS in INFANTS - High dose supplementation may alter metabolism of vitamin K - Enhanced anticoagulant effects of WARFARIN.
What is the name of Vitamin K?	Phytomenadione - Phylloquinone - Phytonadione - Menaquinone.
What is Vitamin K function?	It is reduced by EPOXIDE REDUCTASE, COFACTOR for Y-Carboxylation of glutamic acid residues on various proteins required for blood clotting. Synthesized by intestinal flora.
Which Coagulation factors are K dependant ?	II - VII - IX - X - Protein C & S.
What is MOA of Warfarin ?	Inhibits Vitamin K dependent synthesis of coagulation factors.
What disease is associated with VITAMIN K DEFICIENCY?	NEONATAL HEMORRHAGE with H: PT & PTT but normal bleeding time. (Neonates have sterile intestines an are unable to synthesize vitamin K). ALSO AFTER PROLONGED USE of BROAD SPECTRUM ANTIBIOTICS. Not in breast milk.
What is ZINC function?	Necessary for more than 100 enzymes.
What disease is associated with ZINC DEFICIENCY ?	Delayed wound healing - Suppressed immunity - MALE HYPOGONADISM - L adult hait (Axilary - Facial - Pubic ) Dysgeusia, Anosmia. Associated with ACRODERMATITIS ENTEROPATHICA. May predispose to ALCOHOLIC CHRRHOSIS.
What is KWASHIORKOR ?	PROTEIN MALNUTRITION - Skin lesion - EDEMA - Liver malfunction - SMALL CHILD WITH SWOLLEN ABDOMEN. MEALS (Malnutr - PITTING Edema - Anemia - Liver(fatty) - Skin lesions (Hyperkeratosis - Dyspigmentation).
What is MARASMUS?	Malnutrition NOT CAUSING EDEMA - Diet is deficient in CALORIES but no nutrients are enterelt absent. MUSCLE WASTING.
Whats the ATB tratment for MARASMUS with no clinical signs of INFECTION	COTRIMOXAZOLE ( Trimethoprim / Sulfamethoxazole)
What is the ATB treatment for a patient with MARASMUS and clinical signos of INFECTION - HYPOGLYCEMIA OR HYPOTHERMIA	Parenteral AMPICILLIN & GENTAMICIN.
What is the REFEEDING SYNDROME	Start nutrition on a MARASMOUS patient - At least 5 days starving cells are intracellulary depleted. EAT AGAIN= L serum levels of Mg - PO4 - K (ARRHYTMIAS & NEUROLOGICAL sympthoms.
Where does Ethanol metabolism takes place ?	LIVER (Citosol & Mitochondria) Two step process.
What enzymes are related with ethanol metabolism?	From Ethanol to Acetaldehyde ( ALCOHOL DHS) - CITOSOL. From Acetaldehyde to Acetate (ACETALDEHYDE DHS) - MITOCHONDRIA.)
What drugs inhibit those enzymes?	FOMEPIZOLE ( Inh. ALCOHOL DHS) Antidote for OVERDOSES of METHANOL or ETHYLENE GLYCOL // DISULFIRAM (Inh. ACETALDEHYDE DHS) Increase Acetaldehyde = H: Hangover Symptoms.
Which are the producs of ETHANOL METABOLISM?	H: NAHD / NAD + ratio causing (DISFAVORS TCA CYCLY) 1. LACTIC ACIDOSIS / 2. FASTING HYPOGLICEMIA / 3. KETOACIDOSIS / 4. HEPATOESTEATOSIS.
Sympthoms of Excessive Alcohol Consumption.	CNS depressant - Hypoglycemia - Ketone body formation - Lactic Acidosis - Accumilation of fatty acids - Hyperuricemia - Hepatitis & Cirrhosis. (ALL CUZ H: NADH.
Why ethalon consumption INH. TCA CYCLE ?	Cuz NADH inhibits two important enzymes of it: ISOCITRATE DHS & A- KETO GLUTARATE DHS /They both produce NADH so its like a negative feedback) It also prevent OXALOACETATE converts to CITRATE and send ir backwards to produce MALATE (Favor KETOGENESIS)
Why is Ketone bodies formation increased ?	Malate deviation & Because from ACETATE you can produce ACETYL COA and KETONE BODIES
Why LACTIC acidosis is produced ?	Limited NAD+ in body - With alcohol it is all converted into NADH and overwhelms electron transport chain - NADH inhibis PYRUVATE DHS ( From pyruvate to Acety CoA) Then Pyruvate is converted in LACTATE.
What fatty acids are produced?	Inhibition of BETA OXIDATION because - NAD+ is needed to it and all is converted into NADH / When TCA is stoped CITRATE is shunted to cytosol and then converted into FATTY ACIDS & Citrate STIMULATES the RATE LIMITING enzyme for FA synthesis (Acetyl CoA Carboxylase) From Acetyl CoA to Malonyl CoA (IT INHIBITS B OXIDATION OF FA)
Why is High URIC ACID ?	Uric acid and LACTATE use the same trasnporter in PROXIMAL TUBULE - Uric acid is reabsorbed to eliminate LACTATE. So this process increase
Why Hepatitis and Cirrhosis gets produced?	Acetaldehyde needs NAD+ to produce Acetate. ACETALDEHYDE builds up in liver where is TOXIC
What is the MICROSOMAL ETHANOL - OXIDIZING SYSTEM?	Alternative pathway to metabolize ethanol - Becomes important when excessive consumption - LIVER - Generates acetaldehyde and acetate - Needs NADPH & O2 - Generates free redicals.
What is Alcohol flushing?	Skin flushion when consuming alcohol - Inherited deficiency ALDEHYDE DHS (ALDH2) Possible HIGH RISK of ESOPHAGEAL ANR OROPHARYNGEAL CANCER.
What metabolic processes take place at the MITOCHONDRIA	Farry acid oxidation (Beta oxidation) / Acetyl CoA production / TCA Cycle / Oxidative phosphorylation / Ketogenesis.
What metabolic processes take place at the CYTOPLASM	Glycolysis - HMP shunt - Synthesis of cholesterol - Proteins - Fatty acids and Nucleotides.
What metabolic processes take place IN BOTH MITOCHONDRIA AND CYTOPLASM	Heme synthesis - Urea Cycle - Gluconeogenesis - "HUGs take two "
What is a KINASE	Transfer a phosphate from a Energy molecule (ATP) to a substrate.
What is a PHOSPHORYLASE	Adds inorganic phosphate onto a substrate (WITHOUT ATP)
What is a PHOSPHATASE	Removes Phosphate from substrate
What is a DEHYDROGENASE (DHS)	Catalyzes Oxidation-Reduction reactions.
What is a HYDROXYLASE	Adds hydroxyl group (-OH) onto substrate
What is a CARBOXYLASE	Transfers CO2 with help of Biotin (Vitamin B7)
What is a MUTASE	Relocates a functional group within a molecule.
What is a SYNTHASE / SYNTHETASE	Joins two molecules together using a source of energy.
In Glycolysis ?	Phosphofructokinase - 1 (PFK-1)
What INDUCES PFK-1 action?	AMP - Fructose 2,6 - Biphosphate.
What INHIBITS PFK-1 action?	ATP - Citrate.
In Gluconeogenesis?	Fructose 1,6 Bisphosphatase
What INDUCES Fructose 1,6-Bisphosphatase action?	Citrate
What INHIBITS Fructose 1,6-Bisphosphatase action?	AMP - Fructose 2,6 - Biphosphate.
In TCA Cycle?	Isocitrate DHS
What INDUCES Isocitrate DHS action?	ADP
What INHIBITS Isocitrate DHS action?	ATP - NADH
In Glycogenesis?	Glycogen Synthase
What INDUCES Glycogen Synthase action?	Glucose 6 phostate - Insulin - Cortisol.
What INHIBITS Glycogen Synthase action?	Epinephrine - Glucacon.
In Glycogenolysis?	Glycogen Phosphorylase
What INDUCES Glycogen Phosphorylase action?	Epinephrine - Glucacon - AMP (Ca 2+ in muscles)
What INHIBITS Glycogen Phosphorylase action?	Glucose 6 phostate - Insulin - ATP
In HMP Shunt ?	Glucosa 6 - phosphate DHS (G6PD)
What INDUCES G6PD action?	NADP+
What INHIBIST G6PD action?	NADPH
In De Novo Pyrimidine Synthesis?	Carbamoyl Phosphate Synthetase II
What INDUCES Carbamoyl Phosphate Synthetase II action?	ATP - PRPP
What INHIBITS Carbamoyl Phosphate Synthetase II action?	UTP
In De Novo Purine Synthesis?	Glutamine - Phosphoribosylpyrophosphate (PRPP) Amidotransferase
What INDUCES Glutamine - PRPP Amidotrasnferase?	-
What INHIBIST Glutamine - PRPP Amidotrasnferase?	AMP - IMP - GMP
In Urea Cycle?	Carbamoyl phosphate Synthetase I
What INDUCES Carbamoyl Phosphate Synthetase I action?	N - Acetylglutamate
What INHIBITS Carbamoyl Phosphate Synthetase I action?	-
In fatty acid synthesis?	Acetyl CoA Carboxylase (ACC)
What INDUCES ACC action?	Insulin - Citrate.
What INHIBITS ACC action?	Glucagon - Palmitoyl-CoA
In Fatty acid oxidation?	Carnitine Acyltrasnferase I
What INDUCES Acyltransferase I action?	-
What INHIBITS Acyltransferase I action?	Malonyl CoA
In Ketogenesis?	HMG - CoA Synthase
in Cholesterol Synthesis?	HMG- CoA Reductase
What INDUCES HMG CoA Reductase action?	Insulin - Thyroxine - Estrogen.
What INHIBITS HMG CoA Reductase action?	Glucagon - Cholesterol.
Total ATP production in Aerobic metabolism?	32 net ATP in TCA Cycle. Víaa Malate - Aspartate Shuttle (Heart and Liver) // 30 net ATP via Glycerol 3-phosphate shuttle (Muscle)
Total ATP production in Anaerobic metabolism?	2 net ATP per glucose molecule.
What effect does ARSENIC have in Glycolisis ?	ZERO net ATP production.
What molecule carries ATP ?	Phosphoryl groups
What molecule carries NADH - NADPH - FADH2?	Electrons
What molecule carries CoA, Lipoamide?	Acyl groups
What molecule carries Biotin?	CO2
What molecule carries Tetrahydrofolates ?	1 - Carbon units.
What molecule carries S- Adenosylmethionine (SAM)?	CH3 groups?
What molecule carries TTP?	Aldehydes.
Which are the Universal Electron Acceptors ?	Nicotinamides (NAD+ & NADP+ from vitamin B3: Niacin) & Flavin nucleotides (FAD from vitamin B2)
Where is NAD+ used ?	Catabolic processes to carry reducing equivalents away as NADH
Where is NADP+ used ?	Anabolic processes as supple for reducing equivalent (Steroid & Fatty acid Synthesis)
Where is NADPH used?	In ANABOLIC processes - Respiratory Burst - Cytochromo P450 - Glitathione reductase. (NADPH is produced in HMP Shunt)
What is the difference between Hexokinase Vs. Glucokinase?	Both phosphorilate GLU into Glu 6- Phosphate. In LIVER by Glucokinase and in OTHER TISSUES by Hexokinase.
Hexokinase characteristics?	In most tissues except LIVER and PANCREATIC B - CELLS // Km Lower (H: Glu affinity) // Vmax Lower (L: Capacity) NOT INDUCED BY INSULINE (Body needs glucose always) FEEDBACK Inhibition by GLUCOSE 6 PHOSPHATE.
Glucokinase cheracteristics?	Liver and Beta cells in PANCREAS - Km Higher (L: Glu affinirt( // Vmax Higher (H: Capacity) INDUCED BY INSULINE (To store Glu) NO feedback inhibition.
Glycolysis.	Glucose + 2Pi + 2 ADP + 2 NAD+ = 2 Pituvate + 2ATP + 2NADH + 2H + 2H2O.
Reactions that require ATP in Glycolysis	(Glu to Glu 6 P) Hexo/GlucoKinase - Glu 6P inhibits Hexokinase / Fructose 6P inhibits Glucokinase. (Fructose 6P to Fruct 1,6 BiP) PFK-1***
Reactions that produce ATP in Glycolysis	1,3 BPG to 3 PG (Phophoglycerate kinase) // Phosphoenolpyruvate to Pyruvate (Pyruvate Kinase: Induced by: Fructose 1,6 BiP and Inhibited by: ATP & Alanine.
Regulation of Fructores BiPhosphatase - 2	(FBPase-2 & PFK-2 ARE THE SAME BIFUNCTIONAL ENZYME whose function is reversed by phosphorylation by PROTEIN KINASE A.
Characteristics of fasting state	H: Glucagon - cAMP - Protein Kinase A - FBPase - 2 L: PFK-2 = MORE GLUCONEOGENESIS that glycolysis. "FaBian the Peasant (FBP) has to work hard when starving.
Characteristics of fed state	H: PFK- 2 & INSULIN. L: Glucacon - cAMP - Protein Kinase A. MORE GLYCOLYSIS than Gluconeogenesis. "Lazy spoiled Prince FredericK (PFK) works only when fed"-
What is the PYRUVATE- DHS complex	Enzyme complex linking Glycolysis & TCA Cycle (Depending on Fed vs starving state) // Pyruvate + NAD+ + CoA = AcetylCoA + CO2 + NADH. (Like a ketoglutarate DHS complex: Same cofactor but in TCA cycle from a-ketoglutarate to Succinyl CoA.
How is the complex composed?	3 Enzymes requiring 5 Cofactors. ( Thiamine TP (Vit B1) / Lipoic Acid / CoA (Vit B5 Pantothenic acis) / FAD + (Rivoflavin Vit B2) / NAD+ (Niacin, Vit B3). "The Lovely Coenzymes For Nerds"
What INDUCE the complex	H: NAD+ / NADP+ - ADP - Ca
What effect does ARSENIC have in this complex ?	INHIBITS Lipoic acid - ARSENIC POISONIN - Like a Vampire.
Arsenic Poisoning features?	Imagine a VAMPIRE ( Pigmentary skin changes, Skin Cancer - Vomiting - Diarrhea - QT prolongation - Farlic Breath.
Pyruvate DHS complex DEFICIENCY	X-Linked or Acquired = Pyruvate BUID UP and SHUNTED to LACTATE & ALANINE.
Pyruvate DHS complex DEFICIENCY features	Neurologic defect - Lactic acidosis - H: Serum alanine START: Infancy. TREAT: H Ketogenic nutrients (H content Lysine - Leucine)
What are the possible metabolic ways to Pyruvate.	To: Alanine (Cahill Cycle) - Oxaloacetate (TCA cycle or Gluconeogenesis) - Acetyl - CoA (TCA cycle) - Lactate (Cori Cycle)
Pyruvate to Cahill Cycle	Co factor: ALANINE AMINOTRASNFERASE - ALT (B6) = Alanine (Carries amino groups to the LIVER from MUSCLE.
Pyruvate to OXALOACETATE	Pyruvate carboxylase (Biotin) - From Pyruvate to Oxaloacetate that can Replenish TCA Cycle or be used in Gluconeogenesis.
Pyruvate to ACETYL COA	Pyruvate DHS (B1-B2-B3-B5- Lipoic acid) Transition from flycolysis to TCA Cycle.
Pyruvate to LACTATE	Lactis acid DHS (B3) - END of anaerobic glycolysis (Mayor pathway in RBCs WBCs Kidney medulla, lens, testes and cornea.
What is TCA Cycle	Krebs Cycle - From Pyruvate to Acetyl CoA
What are TCA products ?	3 - NADH / 1 FADH2 / 2 CO2 / 1 GTP per Acetyl Coa = 10 ATP (2 Acetyl CoA for every glucose)
Where does TCA take place?	In the MITOCHONDRIA
Cofactors required by Alpha- Ketoglutarate DHS complex?	Same as Pyruvate DHS (B1 - B2 - B3 - B5 - Lipoic acid)
"Citrate Is Kreb's Starting Substrate For Making Oxaloacetate	Citrate - Isocitrase - alpha-Katoglutarate - Succinyl CoA - Succinate - Fumarate - Malate - Oxaloacetate.Â
What complexes are the stating ones for NADH & FADH2 ?Â	NADH enters throught the I COMPLEX // FADH2 enters throught II COMPLEX ( Lower enery than NADH)Â
What inhibits Complex IÂ	2-4 - Dinitrophenol - Aspirin overdose . (Produces heat) - Rotenone.Â
What inhibits Complex II	??Â
What inhibits COENZYME Q	Statins decrease synthesis of it - Decrease ATP in muscles - Crampos and Pain. (Rabdomiolysis)
What inhibits Complex III	ActymycinÂ
What inhibitd Complex IVÂ	Cyanide / CO / Azide.Â
What inhibits Complex V (ATP Synthase complex)Â	Oligomycin.Â
DRACCO MnemotecniaÂ	Dinitrophenol - Rotenone - Actimycin - Cyanide - CO2 - Oligomycin.Â
How many ATPs does a NADH produce vÃa ATP Synthase?Â	2,5 ATPs.Â
How many ATPs does a FADH produce vÃa ATP Synthase?Â	1,5 ATPs.Â
When does Gluconeogenesis start to be active?Â	4 to 6 HOURS after last meel - FULLY ACTIV 10 - 19 hours after last meel.Â
Where does Gluconeogenesis take plac and why is it for ?	In LIVER - Mantein euglycemia during fasting - (Ez also in kidney - intestinal epithelium ) NOT able in MUSCLE (It laks glucose -6 phosphatase)Â
How can FATTY acids help to produce Glucose ?Â	Odd-chain FA Yield 1 propionyl CoA - which an enter the TCA Cycle, undergo gluconegenesis and serve as glucose source. // EVEN chain FA CANNOT produce new glucose - the yield only Acetyl CoA equivalents.
"Pathway Produces Fresh Glucose"Â	Pyruvate Carboxylase - Phosphoenolpyruvate Carboxylase - Fructore 1,6-Bisphosphatase - Glucosa 6 phosphatase.Â
Pyruvate Carboxylase	MITOCHONDRIA - From Pyruvate - Oxaloacetate (Biotin) ATP - (+) Acetyl CoA.
Phosphoenolpyruvate Carboxylase	CYTOSOL - Drom Oxaloacetate to Phosphoenol pyruvate - Requires GTP (+) Glucagon - Eponephrine - Cortisol.
Fructose 1,6 Bisphosphatase ***	CYTOSOL. Rate limiting ez - (+) Citrate (-) AMP, Fructore 2,6 Bisphosphate.
Glucose 6 Phosphatase	ER - Glucose 6 - Phosphate to Glucose.
What cofactors need CARBOXYLASES in general?	ABC "ATP - BIOTIN (B7) - CO2)
What is the other known name for th HMP shunt?	The pentose phosphate pathway. Takes place IN CITOPLASM and NO ATPs are needed.
What is the HMP shunt for?	Source of NADPH from ABUNDANYLU aviable Glucose 6-P / And RIBOSE for nucleotide synthesis.
What is the product of HMP shunt for?	Reductive reactions (Glutathione reduction inside RBCs - Fattty acid & cholesterol Biosynthesis).
Where does the HMP shunt takes place?	Lactating mammary glands, LIVER, Adrenal CORTEX, RBCs.
What kind of reaction does the HMP shunt have?	OXIDATIVE (Irreversible) - NONOXIDATIVE (reversible)
Which reactions are Irreversibles ?	From GLU 6P to CO2 + 2NADPH + Ribulose 5P (Glucose 6P DHS) RATE LIMITING STEP. ( ESTIMULATED: NADP+ & INHIBITED: NADPH)
Which reactions are Reversibles?	From Ribulose 5P to Ribose 5P + Glyceraldehyde 3P + Fructose 6P. (Phophopentose isomerase, transketolases) REQUIRES B1.
GLU 6P DHS deficiency features ?	X LINKE RECCESIVE - Most common HUMAN ENZYME deficiency - MORE PREVALENT in AFRICAN AMERICANS - Increase malarial resistance.
Glucose 6 P DHS deficiency characteristics	NADPH is necessary to keep glutathione reduced, which in turn detoxifies free radicals and free radicals and peroxides.
What is the consecuency of LOW NADPH	In RBCs leads to HEMOLYTIC ANEMIA dure to poor RBC defense against oxidizing agents
What kind of components are OXIDIZING AGENTS?	FAVA BEANS // Sulfonamides // Nitrofurantoin // Primaquine // Chloroquine // ANTITB drugs // INFECTION.
How many types of GLU6P DHS there is ?	TWO - Mediterranean variand and africant variant.
What is a HEINZ BODIE	Denaturated GLOBIN chains precipitate within RBCs due to oxidative stress.
What is a BITE CELL	Results from the PHAGOCYTIC REMOVAL of HEINZ BODIES by SPLENIC MACROPHAGES.
What is ESSENTIAL FRUCTOSURIA	Defect in FRUCTOKINASE (From FRUCTOSE to FRUCT 1P) - Autosomal RECESSIVE. Bening - Asympthomatic (Because Fructore is not trapped in cells). HEXOKINASE becomes main pathway for converting FRUCTOSE INTO FRUCTORE 6P.
Essential Fructosuria Symptoms?	FRUCTOSE IN BLOOD AND URINE.
What is HEREDITARY FRUCTOSE INTOLERANCE	Deficiency in ALDOLASE B (From FRUCTOSE 1 P to DIHYDROXYACETONE & GLYCERALDEHYDE. - Autosomal RECESSIVE - Acummulation of FRUCTORE 1 P (Decreasing available P) INHIBITS GLYCONENOLYSIS AND GLUCONEOGENESIS.
Hereditary Fructose Intolerance Symptoms?	Following consumption of FRUIT - JUICE OR HONEY. Urine dipstick NEGATIVE (Only test 4 GLU) // Hypoglycemia - JAUDICE - Cirrhosis - Vomiting.
Hereditary Fructose Intolerance TREATMENT?	L Intake of FRUCTORE & SUCROSE (Fructose & Glu).
What is GALACTOKINASE deficiency	Autosomal RECESSIVE. Galactokinase (From GALACTOSE to GALACTOSE 1P) GALACTITOL Accumulates because if this EZ is not working ALDOLASE REDUCTASE is (From GALACTOSE to GALACTITOL.
Galactokinase deficiency symptoms?	MILD - Galactosemia - Galactosuria - INFANTILE CATARACTS - Failure to track objects or to develop a social smile.
What is CLASSIC GALACTOSEMIA ?	Autosomal RECESSIVE. Galactose 1 P Uridyltransferase. (From Galactose 1-P to Glucose 1P) Accumulation of TOXIC substances (Galactitol = Lenses of the eye)
Classic Galactosemia symptoms?	Develop when infant begins feeding (FAILURE TO THRIVE - JAUNDICE - HEPATOMEGALY - INFANTILE CATARACT - INTELLECTUAL DISABILITY - Can PREDISPOSE to E. Coli sepsis in neonates.
Classic Galactosemia Treatment?	EXCLUDE GALACTOSE & LACTOSE (Galactose & Glucose)
Mnemotecnia	Fructose is to Aldolase B as Galactose is to Uridyl Transferase (FAB GUT) The more serius defects lead to PO4 DEPLETION.
What is SORBITOL	Glucose alcohol counterpart - A way yo trap Glucose IN CELLS - Vía ALDOLASE REDUCTASE. ( From GLU - SORBITOL - FRUCTOSE)
What is sorbitol then used for?	Convert it to FRUCTOSE (Sorbitol DHS)
What causes the deficiency or insufficienty SORBITOL DHS?	RISK od intracellular ACCUMULATION = OSMOTIC DAMAGE ( Cataract - retinopathy and peripheral neuropathy)
From GLU to SORBITOL?	ALDOLASE REDUCTASE.
From SORBITOL to FRUCTOSE	SORBITOL DHS.
Organs that have both enzymes ?	Liver - Ovaries - Seminal vesicles (LOSe Sorbitol)
Organs that have only ALDOLASE REDUCTASE ?	Lens - Retina - Kidnet - Schwann (LuRKS)
What is LACTASE deficiency?	Lactose intolerance - Insuficient LACTASE - (From Lactose to Glu - Galactose)
LACTASE deficiency features?	Stool with L pH - Breath shows H: Hydrogen contect with lactores and HYDROGN BREATH TEST. NORMAL intestinal biopsy
LACTASE deficiency symptoms?	Bloating Cramps - Flatulance - Osmotic Diarrhea.
LACTASE deficiency treatment?	Avoid diary products - Add lactase pills to diet - Lactose free milk.
How many types of Lactase deficiency there are?	PRIMARE - SECONDARY - CONGENITAL LACTASE DEFICIENCY
Primary LACTASE deficiency features ?	Age dependent, Lactase decline after childhood - (ABSENCE OF LACTASE PERSISTENT ALLELE) Common in Asian - African or Native american descent.
Secondary LACTASE deficiency features ?	Loss od intestinal brush border due to GASTROENTERITIS (Rotavirus) - Autoimmune disease.
CONGENITAL LACTASE deficiency features ?	Rare, due to a defective gene
ESSENTIAL Aas?	PVT TIM HaLL // Phenylalanine - Valine - Tryptophan - Threonine - Isoleucine - Metionine - Histidine - Leucine - Lysine.
Glucogenic Aa?	Methionine - Histidine - Valine (I met his valentine, she is so sweet)
Glucogenic / Ketogenic Aa ?	Isoleucine - Phenylalanine - Threonine - Tryptophan.
Ketogenic Aa ?	Leucine - Lysine ( The only pure ketogenic Aas)
ACIDIC Aa?	Aspartic ACID - Gluctamic ACID (Negativeli charged at body pH)
BASIC Aa?	Arginine (Most basic) , Histidine (No charge at body pH) , Lysine. (Aginine and histidine are required during perios of growth) (Arginine and Lysine are H in Histones which bind negatively charged DNA.
What is UREA cycle?	Aa CATABOLISM results in metabolites (PYRUVATE - Acetyl CoA) that serve as fuel. NITROGEN generated by this process is converted to UREA and EXCRETED by kidneys.
Mnemotecnia	Ordinary, Careless Crappers Are Also Frivolous About Urination. (Ortinine + Carbamoyl phospate - Citruline - Aspartate - Arginosuccinate - Fumarate - Arginine - Urea.
What is CAHILL CYCLE for?	To connect between muscle and liver Alanine - Glucose Shunt.
What is CORI CYCLE for?	To connect between muscle and liver, Lactat - Glucose Shunt.
What are HYPERAMMONEMIA symptoms	Flapping tremor (Asterixis) - Slurring of speech - Somnolence - Vomiting - Cerebral edema - Blurring of vision.
Why is Hyperammonemia produced?	Because the H: NH3 depletes Glutamate in CNS - inhibiting TCA Cycle (L: alpha ketoglutarate)
What is Hyperammonemia etiology?	Can be: ACQUIRED (Live disease) - HEREDITARY.
What is Hyperammonemia treatment?	Limit protein intake
What medication can decrease ammonia levels ?	Lactulose(To acidify GI trant and trap NH4 for excretion) // Antibiotics (Rifaximin-Neomycin) To L ammoniagenic bacteria // Benzoate, Phenylacetate or Phenylbutyrate that react with Glycine or Glutamine - Forming product that are excreted renally.
What is ORNITHINE TRASNCARBAMYLASE DEFICIENCY ?	Most common UREA cycle disorder. X - Linked RECESSIVE. Other Urea Cycle diseases are Auto. RECESSIVE. Interferes with BODY'S ABILITY to eliminate ammonia.
Ornithine Transcarmbomylase deficiency characteristics?	Orotic acid increased in blood and urine - L: BUN - Hyperammonemia sypmthoms - NO MEGALOBLASTIC ANEMIA - FIST FEW DAYS OR LIFE
What derivatives are produced by PHENYLALANINE? (5)	Tyrosine - Dopa - Dopamine - NE - Epi.
What derivatives are produced by TRYPTOPHAN? (2 vias)	Niacin = NAD / NADP or Serotonnin = Melatonin.
What derivatives are produced by HISTIDINE?	Histamine
What derivatives are produced by GLUTAMATE? (2)	GABA - Glutathione.
What derivatives are produced by ARGININE? (3)	Creatinine - Urea - Nitric Oxide.
Etiology of ALBININSM	1. Tyrosinase deficincy or defective tirosine transport (From DOPA to Melanin) OR 2. NOT having melanocytes.
What is PHENYLKETONURIA	Autosomal RECESSIVE 1:10000 Via two ways: 1. L: Phenylalanine hydroxylase or 2. L: Tetrahydrobiopterin (BH4) cofactor (MALINGNANT PKU) Both required FROM Phenylalanine to Tyrosine.
Phenylketonuria etiology?	H: Phenylalanine (Phenylketonuria) that CANNOT be converted in TYROSINE (which becomes essential)
What are the consequencies of having H: Phenylalanine	It uses transporters in blood for TYROSINE & THRYPTOPHAN - Impairing CHO synthesis = L: LDL & HDL L: Mielin. // Also: Decreasing levels of absoption and production of DOPAMINE - NE - SEROTONINE in brain = INTELLECTUAL DISABILITY.
What are Phenylketonuria features?	Intellectual disability - Growth retardation - Seizures - Fair complexion - Eczema - MUSTY BODY ODOR.
Which are the Phenylketones?	Phenylacetate - Phenyllactate - Phenylpyruvate (Cross placenta: Lack of maternal proper diet = Microcephaly - Intellectual disability - Growth retardation - Congenital heart defects.
When is PKU screening ?	2 - 3 days after birth
What is PKU treatment?	L: Phenylalanine and H: Tyrosine in diet. Tretrahydrobiopterin suppllementation. // AVOID artificial sweetener ASPARTAME contains Phenylalanine.
What is MAPLE SYRUD URINE DISEASE	Autosomal RECESSIVE. Bloqued degradation of BRANCHED Aa ( Isoleucine- Leucine - Valine) L: Branched - chain - alpha - ketoacid DHS.
Maple syrup urine disease characteristics?	H: Alpha - Ketoacids in blood, especially those od LEUCINE.
What are Maple Syrup Urine Disease Features ?	CLASSIC - Symptomps 48 hours after birth INTERMEDIATE: Later in life - Vomiting, Poor feeding - Urine smells like maple syrud/burnt sugar. Severe CNS defects intellectual disability & death.
What is Maple Syrup Urine Disease Features ?	RESTRICTION of Isoleucine - Leucine - Valine in diet- and THIAMINE supplementation. / Hemodialisis / Liver transplant.
What is ALKAPTONURIA	Autosomal RECCESIVE - Congenital deficiency of HOMOGENTISATE OXIDASE in the degradative pathway or TYROSINE to FUMARATE. Pigment BUILDS UP in tissue. BENING
Alkaptonuria features?	Bluish - black connective tissue - Ear cartilage & Sclerae (OCHRONOSIS) Urine turns black on prolonged exposure to air. Arthralgias.
What is HOMOCYSTINURIA.	Lots of causes: All autosomal recessive. Excess of HOMOCYSTEINE
What are Homocystinuria causes	1. CYSTATHIONINE SYNTHASE DEFICIENCY. (From Homocystein to Cysteine) TREAT: L: Methionine H: Cysteine, b6, b12, folate in diet).
What are Homocystinuria causes	2. Low affinity of CYSTATHIONE SYNTHASE for Pyridoxal phospathe. TREAT: HH: B6 & H: Cysteine in diet)
What are Homocystinuria causes	3. METHIONINE SYNTHASE DEFICIENCY (From Methionine to Homocystein) TREAT: H: Methionine in diet.
What are Homocystinuria causes	4. METHYLENETETRAHYDROFOLETE REDUTASE (MTHFR ) Deficiency TREAT: H: Folate in diet.
Homocystinuria features:	HOMOCY: H: Homocysteine in urine - Osteoporosis - Marfanoid habitus - Ocular changes (Down and Inward subluxation) Cardiovascular effects (Thrombosis & atherosclerosis = STROE & MI in childhood - kYphosis - Intellectual disability - Fair complexion.
How do you diagnose Homocystinuria	Symptoms - Family history - H: Homocysteine in urine - Methionine - Homocysteine - L: Cysteine levels and TEST FOR B6 - B12 - FOLATE.
What is CYSTINURIA	Autosomal RECESSIVE Common 1:7000. Herediraty defect of RENAL PTC (proximal convoluted tubule ?) and intestinal Aa transporters that PREVENTS reabsorption of COLA (Cystine - Ornithine - Lysine - Arginine)
What is Cystine?	2 Cysteines connected by a disulfide bond.
What is the consequency of the disease?	Recurrent precipitation of HEXAGONAL CYSTINE STONES.
How do you diagnose Cystinuria?	Urinary Cyanide - Nitroprusside test is diagnostic.
What is Cystinuria treatment?	Urinary ALKALINIZATION ( Potassium citrate - Acetazolamide) & Chelating agents (Penicillamine) H: Solubility of cystine stone - Good hydration.
What is PROPIONIC ACIDEMIA	Autosomal RECESSIVE - Deficiency of PROPIONYL COA CARBOXYLASE (From Propionyl CoA to Methimalonic Acid) Accumulation of PROPIONYL CoA.
Propionic Acidemia Features?	Poor feeding - Vomiting - Hypotonia - Anion GAP metabolic acidosis - Hepatomegaly - Seizures.
Propionic Acidemia Treatment?	Low protein diet that does not include ISOLEUCINE - METHIONINE - THREONINE - VALINE. (Substances that metabolize into Propionyl CoA makes you VOMIT)
VOMIT mnemotecnia	Valine - Odd chain fatty acid - Methionine - Isoleucine - Treonine.
Characteristics of GLYCOGEN	Glycogen has branches: Alpha 1-6 between bonds & Alpha 1-4 between linkages.
What happened with GLYCOGEN in SKELETAL Muscle?	Glycogenolysis - Glu 1P - Glu 6P - Metabilized during exercise.
What happened with GLYCOGEN in HEPATOCYTES?	Stored and undergoes Glycogenolysis. GLYCOGEN PHOSPHORYLASE liberates GLU 1P residues of branched glycofen until 4 Glu units remain on a branch. Then 4 a-d- Glucanotrasnferase (Debranquin EZ) moves 3 of the 4 Glucose units from the branch. Then a 1-6 glucosidase (Debranquin EZ) Creaves off the last residue liberating Glu.
What is Limit Dextrin?	Refers to the 1 - 4 residues remaiing after glycogen phosphorylase has shortened it.
Glycogen storage Diseases	At leat 15 - Abnormal Glycogen metabolism & Accumulation of Glycogen. Types important "Very (I) Poor (II) Carbohydrate (III) Metabolism (V)" ALL Autosomal RECESSIVE.
What is the name of Type I Glycogen Storage Disease?	Von Gierke Disease.
What enzyme is Deficient in Type I GSD?	GLUCOSE 6 - Phosphatase.
What are its features?	SEVERE fasting HYPOGLYCEMIA - HH: Glycogen in liver and kidneys - H: Blood lactate, TAG, Uric acid (Gout). Hepatomegaly - Renomegaly - LIVER does not regulate blood glucose. IMPAIRED GLUCONEOGENESIS AND GLYCOGENOLYSIS.
What is Type I GSD treatment?	FREQUIENT ORAL GLUCOSE / CORNSTARCH, AVOIDANCE of fructose & galactose.
What is the name of Type II Glycogen Storage Disease?	Pompe Disease
What enzyme is Deficient in Type II GSD?	Lysosomal acid alpha 1-4 GLUCOSIDASE (Acid MALTASE) with Alpha 1 - 6 Glucosidase ACTIVITY ( Infantile and Adult form)
What are its features?	Cardiomegaly - Hypertrophic cardiomyophaty - Hypotonia - Exercise intolerance - Systemic finding = Early death. " Pompe trashes the Pump"
What is the name of Type III Glycogen Storage Disease?	Cori disease (Milder form of Von Gierke)
What enzyme is Deficient in Type III GSD?	DEBRANCHING EZ (Alpha 1-6 Glucosidase).
What are its features?	Milder than type I but with NORMAL blood lactate levels - Accumulation of LIMIT DEXTRIN like structures in cytosol. GLUCONEOGENESIS IS INTACT.
What is the name of Type V Glycogen Storage Disease?	McArdle Disease
What enzyme is Deficient in Type V GSD?	Skeletal muscle GLYCOGEN PHOSPHORYLASE ( MYOPHOSPHORILASE) Blood glucose unaffected.
Tip in diagnosis of Type V GSD?	Hallmark : FLAT venous lactate curve with NORMAL rise in ammonia levels during exercise.
What are its features?	H: Glycogen in muscle but Muscle CANNOT break it douw - PAINFUL MUSCLE CRAMPS - Myoglobinuria (red urine) with strenuous exercise and ARRHYTMIA from Electrolyte abnormalities. SECOND WIND PHENOMENON noted during Exercise due to H. Muscular blood flow.
What is Tay-Sachs Disease?	Autosomal RECESSIVE - Deficient HEXOSAMINIDASE A ("TAy SaX") - Screening in ASHKENAZI 1:30 carrier.
What is accumulated in Tay Sachs Disease?	GM2 - Ganglioside.
Tay Sachs Disease Features ?	Onset in first year of like. Progressive NEURODEGENERATION, Developmental delay - Hyperreflexia - Hyperacusis - "Cherry red" spot on MACULA - LYSOSOMES WITH ONION SKIN - NO hepatosplenomegaly.
How many types of Tay Sachs Diseases there are?	Infantile form: Hyperaccussis & Macrocephaly (Death 3 years) // JUVENILE: Dementia & Ataxia (Death 15 years) ADULT ONSET: Spinocerebellar & Lower motor neurone, psicosis.
What is Tay Sach Disease TREATMENT?	SUPPORTIVE CARE
What is Fabry disease?	X - Linked RECESSIVE - Deficient Alpha- GALACTOSIDASE
What is accumulated in Fabry Disease?	Ceramide Trihexoside (Globotriaosylceramide)
Fabry Disease Features ?	EARLY: Triad of: Episodi peripheral neuropathy - Angiokeratomas - Hypohidrosis. LATE: Progressive RENAL FAILURE, CVS disease
What is Fabry Disease TREATMENT?	ENZYME REPLACEMENT
What is METACHROMATIC LEUKODYSTROPHY?	Autosomal RECESSIVE - Deficient ARYLSULFATASE A
What is accumulated in Metachromatic Leukodystrophy?	CEREBROSIDE Sulfate
Metachromatic Leukodystrophy features?	CENTRAL & PERIPHERAL Demyelination - Ataxia - Dementia // ADULT FORM: After 16 years.
What is Metacrhomatic L. TREATMENT?	BONE MARROW TRANSPLANT still unproven.
What is KRABBE disease?	Autosomal RECESSIVE - Deficient GALACTOCEREBROSIDASE ( Galactosylceraminidase)
What is accumulated in Krabbe disease?	GALACTOCEREBROSIDE, PSICHOSINE.
Krabbe disease features?	Peripheral neuropathy - Destruction of oligodendrocytes - Developmental delay - Optic atrophy - Globoid cells. LIFE EXPECTANCY 2 years
What is Krabbe disease TREATMENT ?	SUPPORTIVE CARE
What is GAUCHER disease ?	Autosomal RECESSIVE - Deficient GLUCOCEREBROSIDASE (Beta- Glucosidase)
What is accumulated in Gaucher disease?	GLUCOCEREBROSIDE
Gaucher disease features ?	Most common - Hepatosplenomegaly - PANCYTOPENIA - Osteoporosis - AVASCULAR necrosis of femur - BONE CRISES - GAUCHER CELLS (Lip laden macrophages resembling CRUMPLED TISSUE PAPER) ERLENMEYER FLASK DEFORMITY (Metaphyseal flaring”.
Types of Gaucher disease?	Type I: Most common Type II: Earlier and severe. Type III: Later, milder.
What is gaucher disease TREATMENT?	RECOMBINANT GLUCOCEREBROSIDASE.
What is Niemann Pick Disease?	Autosomal RECESSIVE - Deficient SPHINGOMYELINASE
What is accumulated in Niemann Pick Disease?	SPHINGOMYELIN.
Niemann Pick Disease features ?	Progressive neurodegeneration, Hepatosplenomegaly, FOAM CELLS (Lipid laden macrophages) “Cherry red spot on macula. Failure to thrive, Microcephaly - ZEBRA BODIES: Macrophages & Neurons.
What is HURLER SYNDROME ?	Autosomal RECESSIVE - Deficient Alpha - L - IDURONIDASE.
What is accumulated in Hurler Syndrome ?	HEPARAN SULFATE - DERMATAN SULFATE.
Hurler Syndrome features?	Developmental delay - Gargoylism - Airway obstruction - Corneal clouding - Hepatosplenomegaly.
Hurler Syndrome TREATMENT?	ENZYME REPLACEMENT
What is HUNTER SYNDROME ?	Autosomal RECESSIVE - Deficient IDURONATE 2-SULFATASE
What is accumulated in Hunter Syndrome ?	HEPARAN SULFATE - DERMATAN SULFATE.
Hunter Syndrome features ?	Mild than Hurler + Aggressive behavior - NO CORNEAL CLOUDING.
Hunter Syndrome TREATMENT?	ENZYME REPLACEMENT
Where does FA synthesis & degradation takes place?	In the MITOCHONDRIAL MATRIX & CYTOPLASM of HEPATOCYTES, mammary glands and adipose tissue.
What is the key point in FA synthesis?	Transpor of CITRATE from mitochondria to cytosol. - CITRATE shuttle.
Who is in charge of that key point in FA degradation ?	CARNITINE - Dependent transport into the mitochondrial MATRIX
Mnemotecnia	SYtrate = SYnthesis // CARnitine = CARnage of FA.
Degradation of FA is also known as?	Beta - Oxiation or FA.
Which is the Rate limiting EZ. in FA. Synthesis?	Acetyl CoA CARBOXILASE (ATP-Biotin-C02)*Cofactors (+) INSULINE - CITRATE (-) GLUCAGON - H: FA
Which is the Rate limiting EZ. in FA. Metabolism?	CARNITINE Acyltransferase-1 (Carnitine palmitoyl trasnferase -1) CAT -1
What is SYSTEMIC 1 CARNITINE DEFICIENCY	Deficient CAT-1 = Defect in Long Chain FA transportation to the mitochondria = Builds up into the cytosol.
SYSTEMIC 1 CARNITINE DEFICIENCY features?	Weakness - Hypotonia - Hypoketotic
What is MEDIUM CHAIN ACYL COA DHS DEFICIENCY?	Decreased ability to break down fatty acids into Acetyl- CoA. = Accumulation of FATTY ACYL CARNITINES in blood.
MEDIUM CHAIN ACYL COA DHS DEFICIENCY features?	Hypoketotic Hypoglycemia - Vomiting - Lethargy - Seizures - Coma - Liver disfunction - Hyperammonemia. Sudden death in infants or children.
Medium Chain Acyl CoA DHS deficiency - Treatment?	AVOID FASTING.
What is the origin of KETONE BODIES?	They are FA & Aa metabolized into ACETOACETATE & Beta-HYDROXYBUTYRATE
Where are these KETONE bodies used?	Muscle & brain.
Where does KETONE bodies CANNOT be used?	RBCs.
Which are the KETONE BODIES in human body?	ACETONE - ACETOACETATE - BETA-HYDROXYBUTIRATE.
What processes favors KETONE BODIES synthesis ?	Prolonged starvation & Diabetic Ketoacidosis (OXALOACETATE is depleted for GLUCONEOGENESIS) // Alcoholism (Excess NADH shunt OXALOACETATE to MALATE // All of that INCREASES ACETYL - CoA and shunts it to KB Synthesis.
What gives the frutty odoo to breath ?	ACETONE
What KETONES can be detected in URINE test ?	ACETOACETATE
What KETONES CANNOT be detected in URINE test ?	Beta - HYDROXYBUTYRATE.
What EZ takes place in KETONE production?	HMG - CoA - LYASE
What EZ takes place in CHOLESTEROL Synthesis?	HMG - CoA - REDUCTASE
How many Kcal does 1g of CH/PROT aports to the body?	4 Kcal / g CH/Pro
How many Kcal does 1g of ALCOHOL aports to the body?	7 Kcal / g
How many Kcal does 1g of FATTY ACIDs aports to the body?	9 Kcal / g
Which are PRIORITIES during FASTING & STARVATION?	Glu to brain and RBCs & preserve PROTEIN.
What metabolic pathways leads in the FED STATE (After a meal)?	Glycolisis and AEROBIC respiration. // INSULIN (+) STORAGE of: LIPIDs - Proteins - Glycogen.
What metabolic pathways leads in the FASTING (Between meals)?	HEPATIC GLYCOGENOLYSIS (major) Hepatic Gluconeogenesis - Adipose release of FFA (minr) // GLUCAGON & EPI (+) Use of fuel reserves.
What metabolic pathways leads in the STARVATION 1-3 days?	Blood Glu is manteined by: HEPATIC GLYCOGENOLYSIS / Adipose release of FFA / Muscle & Liver SHIFT fuel use from GLU to FFA = Hepatic Gluconeogeneris from peripheral tissue LACTATE & ALANINE & from ADIPOSE TISSUE glycerol & propionyl CoA.
What kind of FA can contribute to GLUCONEOGENEIS	Odd chain FREE FA.
How long does the Glycongen reserves last?	Glycogen reserves are depleted after day 1.
What metabolic pathways leads in the STARVATION >3 days?	Adipose stores (Ketone bodies become main source of energy) After its depletion - VITAL PROTEIN DEGRADATION ACCELERATE = Organ failure & death.
What determinates the survival time?	Rhe amount of excess strores.
How is the LIPID transport through the body?	-
What is CHOLESTERYL ESTER TRANSFER PROTEIN role?	Mediates transder of CHO esters to OTHER lipoprotein particles.
What is HEPATIC LIPASE role?	Degrades TGs remaining in IDL.
What is HORMONE- SENSITIVE LIPASE role?	Degradaes TGs stored in ADIPOCYTES.
What is LECITHIN CHOLESTEROL ACYLTRANSFERASE role?	Catalyzes ESTERIFICATION of 2/3 of plasma CHOLESTEROL.
What is LIPOPROTEIN LIPASE role?	Degrades TGs in circulation CHYLOMICRONS.
What is PANCREATIC LIPASE role?	Degrades dietary TGs in small intestine.
What is PCSK9 role?	Degrades LDL receptor = H: Serum LDL inhibition = H: Recycling of LDL receptor = L: Serum LDL
What is the function of Apolipoprotein E?	Mediates remanent UPTAKE (Everything Except LDL)
What compounds does the Apolipoprotein E have?	Chylomicron - Chylomicron remnant - VLDL - IDL - LDL - HDL
What is the function of Apolipoprotein A - I ?	Activates LCAT.
What compounds does the Apolipoprotein A - I have?	Only HDL.
What is the function of Apolipoprotein C - II?	Lipoprotein lipase Cofactor that Catalyzes Cleavage.
What compounds does the Apolipoprotein C - II have?	Chylomicron - VLDL - HDL.
What is the function of Apolipoprotein B - 48?	Mediates chylomicron secretion into lymphatics. Only on particles originating from intestines.
What compounds does the Apolipoprotein B - 48 have?	Chylomicron - Chylomicron remnant.
What is the function of Apolipoprotein B - 100 ?	Binds LDL receptors, ONLY on particles originating from LIVER
What compounds does the Apolipoprotein B - 100 have?	VDLD - IDL - LSL.
Function of CHYLOMICRON?	Delivers: 1. Dietary TGs to peripheral tissues. 2. Cholesterol to liver in the form of chylomicron remnants. SECRETED By Intestinal Epithelial Cells.
Function of VLDL?	Delivers HEPATIC TGs to peripheral tissue - Secreted by LIVER.
Function of IDL ?	Delivers TGs & Cholesterol to LIVER. Formed from degradation of VLDL.
Function of LDL?	Delivers HEPATIC cholesterol to peripheral tissues. Formed by Hepatic modification of IDL in liver and peripheral tissue.
Function of HDL?	Mediates REVERSE CHOLESTEROL transport from PERIPHERY to LIVER. Acts as a repository for APOLIPOPROTEINS C & E. Secreted from both liver and intestine. ALCOHOL INCREASES SYNTHESIS.
What is ABETALIPOPROTEINEMIA?	Autosomal RECESSIVE. Mutation of a gene that encodes MICROSOMAL TRANSFER POINT (MTP). Deficiency in Apo B 48 & ApoB 100.
What is ABSENT in Abetalipoproteinemia?	Chylomicrons - VLDL - LDL
What are Abetalipoproteinemia features ?	Severe fat malabsorption - Steatorrhea - Failure to thrive. LATER: Retinitins pigmentosa - Spinocerebellar degeneration due to vitamin E deficiency, progressive ataxia, acanthocytosis.
What is the finding in INTESTINAL BYOPSY?	LIPID LADEN ENTEROCYTES.
What is Abetalipoproteinemia TREATMENT?	Restriction of LONG - CHAIN - FA // Large dosis of oral VITAMIN E.
What is Type I familial dyslipidemias?	HyperCHYLOMICRONEMIA. Autosomal RECESSIVE.
What is deficient in Typer I familial dyslipidemia?	Lipoprotein lipase OR Apolipoprotein CII
What is increased in Type I familial dyslipidemia?	Chylomicrons - TGs - Cholesterol.
Clinical findings in Type I familial dyslipidemias?	Increase risk of PANCREATITIS - Hepatosplenomegaly - Eruptive/Pruritic Xanthomas (NO INCREASED RISK for Atherosclerosis) - Creamy layer in supernantant.
What is Type II familial dyslipidemia?	HyperCHOLESTEROLEMIA. Autosomal DOMINANT.
What is deficient in Typer II familial dyslipidemia?	Absent or defective LDL receptors / Or Defective ApoB-100
What is increased in Type II familial dyslipidemia?	IIa: LDL & CHO // IIb: LDL ; CHO & VLDL.
Clinical findings in Type II familial dyslipidemia	Heterozygotes (1:500) CHO =* 300mg/dL; Homozygotes (very rare) CHO=*700mg/dL. Accelerated Atherosclerosis (MI < 20) Tendon (Achilles) xanthomas & corneal arcus.
What is Type III familial dyslipidemias?	Dysbetalipoproteinemia. Autosomal RECESSIVE.
What is deficient in Type III familial dyslipidemia?	Defective Apo E
What is increased in Type III familial dyslipidemia?	Chylomicrons - VLDL.
Clinical findings in Type III familial dyslipidemia?	Premature atherosclerosis - Tuberoeruptive and palmar XANTHOMAS.
What is Type IV familial dyslipidemia?	HYPERTRIGLYCERIDEMIA - Autosomal DOMINANT
What is deficient in Type IV familial dyslipidemia?	HEPATIC OVERPRODUCTION of VLDL
What is increased in type IV familial dyslipidemia?	VLDL - TGs
Clinical findings in Type IV familial dyslipidemia?	Hypetrigliceridemia > 1000 mg/dL (Acute pancreatitis - Related to Insulin resistance.

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