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172 Cards in this Set
- Front
- Back
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only histone not in the nucleosome core
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H1
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AAs of histones
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positively charged lysine and arginine
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AAs needed for purine synthesis
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Glycine
Aspartate (N, not C) Glutamine |
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rate limiting step of purine synthesis
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Glutamine PRPP aminotransferase
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rate limiting step of pyrimidine synthesis
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Carbomoyl phosphate synthetase II (CPSII)
located in cytosol N source from glutamine combines CO2, ATP and glutamine to make carbamoyl phosphate |
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CPS I
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rate limiting step of urea cycle
in mito N from ammonia |
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DNA always written
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5---->3
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both pyrimidine and purine synthesis need....
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PRPP
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hydroxyurea mech
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inhiits ribonuucleotide reductase
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orotic aciduria
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cannot convert orotic acid to UMP
increased orotic acid in urine megaloblastic anemia that does not improve with B12 FTT NO hyperammonemia |
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adenosine deaminase deficiency
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xs ATP and dATP prevents DNA synthesis therefore decreased lymphocytes
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lesch nyhan syndrome
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defective purine salvage
absence of HGPRT = coverts IMP and guanine to GMP xs uric acid X linked recessive |
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frameshift mutation example
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familial hypercholesterolemia
duchennes muscular dystrophy |
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nucleotide excision repair
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endonuclease
DNA pol ligase |
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base excision repair
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glycosylase
AP endonuclease ligase |
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protein synthesis is from...
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N to C
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alpha amantin
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in mushrooms
inhibits RNA Pol II causes liver failure |
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RNA Pol I makes
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rRNA
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RNA pol II makes
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mRNA
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RNA pol III makes
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tRNA
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SLE makes Abs to
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spliceosomal snRNPs
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aminoacyl-tRNA synthetase
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works at 3' end of tRNA
together with binding of charged codon is responsible for accuracy of amino acid seection |
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tetracyclines
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bind 30s subunit
prevent attachement of aminoacyl-tRNA!! |
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chloramphenicol mech
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inhibits 5o3 peptidyltransferase
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macrolide mech
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bind 50s, blocking translocation
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clindamycin mech
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binds 50s, blocking translocation
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streptogramin mech
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inhibit 50s peptidyltransferase
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energy needed for tRNA aminoacylation
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ATP ---> AMP
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energy needed to load rRNA onto ribosome and translocate
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both eed GTP--->GDP
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Rb and p53 inhibit
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G1 to S progression
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Golgi fx
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modifies N-oligosacccs on ASPARAGINE
adds M6P to lysosomal proteins adds O-oligosaccs to SERINE and THREONINE |
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what replicates the lagging strand and synthesizes the RNA primer
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DNA pol alpha
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what repairs DNA
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DNA pol beta
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what replicates mitochondrial DNA
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DNA pol gamma
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what replicates the leading strand of dNA
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DNA pol delta
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what controls the RATE of transcription
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Response elements; enhancers and repressors
location variable |
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chediak-higashi syndome
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microtublue polymerization defect
decreased phagocytosis |
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filament in CT
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vimentin
sarcomas and some carcinomas |
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filament in muscle
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desmine
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filament in epi
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cytokeratin
carcinomas and some sarcomas |
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filament in astrocytes, schwann, glia
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GFAP
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filaments in axons
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neurofilaments
adrenal neuroblastoma, primitive neural ectodermal tumor |
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nuclear lamins
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filaments in nuclear envelope
affected in progeria |
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problem in ehlers danlas
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type III collagen
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osteogenesis imperfecta
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type II fatal in utero
Abnormal type I collagen fractures blue sclerae hearing loss dental imperfections (dentin) |
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alports syndrome
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type IV collagen
X linked |
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marfans
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elastin/fibrillin defect
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syndromes with marfanoid habitus
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marfans
MEN2B homocystinuria |
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prader willi
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deleted Paternal allele
hypotonia poor feeding almond eyes downward turned mouth hyperphagia obesity short MR osteoporosis in childhood give GH for short stature |
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AngelMan's syndrome
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deleted Maternal allele
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skips generations
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auto recessive
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all female offspring affected
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X linked dominant
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X linked dominant disorders
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Hypophosphatemic rickets
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X linked recessive disorders
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Fabry's tale: Ducke the Muscluar Hunter Brutally Lysed the Albinos Gopher without being aWAare is was a Fragile hemophiliac
Fabry's Duchenne's and Beckers Hunters Bruton's agammaglobulinemia Lesch-Nyhan Ocular albinism G6PD deficiency Wiskott-Aldrich Fragile X Hemophilia A and B |
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enzyme that catalyzes peptide bond formating during protein syn
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peptidyl transferase/ribozyme/ribosomal RNA
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achondroplasia
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Auto dominant
FGF receptor defect a/q advaced paternal age |
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Familia adenomatous polyposis
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auto dominant
APC deletion of chrom5 |
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hereditary hemorrhagic telangeictasia (osler weber rendu)
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auto dominant
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NF1
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auto dominant
cafe au lait neural tumors lisch nodules optic gliomas pheochromocytoma |
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NF 2
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b/l coustic neuroma
juvenile cataracts auto dominant |
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auto recessive diseases
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albinism
ARPKD cystic fibrosis glycogen stroage dieases hemochromatosis mucopolysaccharidoses (except hunters) PKU sickle cell sphingolipidosis (except fabry) thalassemias |
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cystic fibrosis
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most lethal genetic dz of caucasians
b/l absence of vas >60 mEq Cl is diagnostic |
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findings of fragile X
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macro-orchidism
long face large jay large everted ears autism MVP trinuc repeat disorder affects methylation and expression of FMR1 gene - involved in mRNA translation |
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trinucleotide repeat disorders
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huntingtons
myotonic dystrophy Friedreich's ataxia fragile X |
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results of quad screen for Down's syndrome
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decreased AFP
decreased estriol incraesed beta HCG increased inhibin A US shows increased nuchal translucency |
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edwards syndrome
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trisomy 18
rocker bottom feet micrognathia low ears clenched hands prominent occiput decreased beta decreased AFP decreased estriol |
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patau's syndrome
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trisomy 13
rocker bottom feet celpt lip/palate holoprosencephay polydactyly heart dz |
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Cri-du-chat
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microdeletion of short chrom 5
mecrocephaly MR epicanthal folds cardiac abnormalities |
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williams syndrome
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microdeletion of long 7
elf like MR HYPERCALCEMIA friendly CV problems |
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takes place in cyto AND mito
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Heme syn
Urea cycle Gluconeogenesis |
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takes place in mito
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beta oxidation
acetyl-coa production TCA OxPhos |
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takes place in cyto
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glycolysis
FA syn HMP shunt Protein syn steroid syn |
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rate limiting enzyme of glycolysis
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PFK-1
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rate limiting enzyme of gluconeogenesis
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fructose-1,6-bisphosphatase
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rate limiting enzyme of TCA
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isocitrate dehydrogenase
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rate limiting enzyme of glycogen synthesis
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glycogen synthase
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rate limiting enzyme of glycogenolysis
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glycogen phosphorylase
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rate limiting enzyme of HMP shunt
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G6PD
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rate limiting enzyme of de novo pyrimidine synthesis
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carbamoyl phosphate synthetase II
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rate limiting enzyme of de novo puring synthesis
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glutamine-PRPP amidotransferase
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rate limiting enzyme of urea cycle
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CPS I
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rate limiting enzyme of fatty acid synthesis
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acetyl-CoA carboxylase
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rate limiting enzyme of fatty acid synthesis
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acetyl-CoA carboxylase
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rate limiting enzyme of fatty acid oxidation
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carnitine acyltransferase I
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rate limiting enzyme of ketogenesis
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HMG-CaA synthase
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rate limiting enzyme of choslesterol synthesis
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HMG CoA reductase
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rate limiting enzyme of heme synthesis
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amino levaluinic synthase
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rate limiting enzyme of bile synthesis
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7 alpha hydroxylase
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NAD + used in
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catabolic processes
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NADPH use
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in anabolic processes
Anabolic processes respiratory burst P450 glutathione reductase product of HMP shunt |
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glycolytic enzyme deficiency
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hemolytic anemia
cannot maintain NaK pump deficiencies include pyruvate kinase or phosphoglucos isomerase |
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pyruvate dehydrogenase complex
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makes Acetyl coa from pyruvate
TLC For Noone TPP (thiamine, pyrophosphate) Lipoic acid CoA FAD NAD (also alphaketoglutarate DHase complex) |
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arsenic
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inhibits lipoic acid
vomitting rice stool garlic breath |
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pyruvate dehydrogenase deficiency
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back up of pyruvate and alanine
lactic acidosis neuro defecits congenetial or acquired by thiamine deficiency tx by increasing lysine and leucine - the only purely ketogenic AAs |
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TCA cycle
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Citrate Is Krebs Starting Substrate For Making Oxaloacetate
Citrate Isocitrate alpha Ketoglutarate Succinyl CoA Fumarake Malate Oxaloacetate |
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irreversible enzymes of gluconeogenesis
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Pathway Produces Fresh Glucose
Pyruvate carboxylase (mito) PEP carbodykinase (cyto) Fructose-1,6-bisposphatase (cyto) Glucose-6-phosphatase (ER) |
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even vs odd chain fatty acids
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odd chain yeild 1 propionlyl-coa that can do gluconeogenesis
even chains cannot do this - only produce acetyl-coA |
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fructose intolerance
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aldolase B
fructose 1 phosphate accumulates-inhibits glycogenolysis and gneogenesis hypoglycemia jaundice cirrhosis vomitting |
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classic galactosemia
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galactose-1-phosphate uridyltransterase
FTT jaundice hepatomegaly infantile cataracts MR |
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galactoknase deficiency
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galactokinase
galactose in urine infantile cataracts might have failure to track objects or to develop a social smile |
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ketogenic AA
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leucine
lysine |
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glucogenic AA
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methionine
vlain arginine histidine |
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glucogenic and ketogenic AA
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Isoleucine
phenyalanine Threonine tryptophan |
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urea cycle
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Ordinarily Careless Crapper Are Also Frivolous About
Urination ornithine + carbomoyl phosphate= citrulene + aspartate = argininosuccinate (-) Fumarate Arginine Urea |
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ornithine transcarbamoylase deficiency
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MC urea cycle disorder
Xlinked recessive (others auto) XS carbamoyl phosphate coverted to orotic acid orotic acid in blood and urine decreased BUN hyperammonemia |
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products of tryptophan
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niacin via B6 (then to NAD)
serotonin and melatonin via BH4 |
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products of histidine
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histamine via B6
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products of glycine
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Porphyrin and heme via B6
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products of arginine
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creat
urea NO |
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products of glutamate
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GABA via b6
glutathione |
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cat synthesis
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phenyalanine
(phenylanaine hydroxylase) tyrosine (tyrosine hydroxylase) dopa (dopa decarboxylase +B6) dopamine (dopamine hydroxylase +vit C) norepi (SAM) epinephrine |
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PKU
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phenylalanine hydroxylase or tetrahydrobiopterin cofactor
tyrosine becomes essential |
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alkaptonuria (ochronosis)
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homogentisic acid oxidase
-degrades tyrosine benign dark CT urine black on standing debilitating arthralgias |
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Albinism
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tyrosinase or tyrosine tranporters
lack of migration of neural crest |
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homocystinruia
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3 auto recessive forms:
1. cystathionine synthase. -tx with decreased Met, increased cysteine, increased B12 and folate 2. decreased affinity of cystathionine synthase for pyridoxal phosphate -tx with lots of b6 3. homocystein methyltransferase ---cysteine essential MR osteoporosis tall dyphosis lens subluxation |
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homocysteine to methionine
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THF-CH3 is the methyl donor
uses B12 |
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met to homocystiene
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met gets adenosine from ATP
SAM removes the methyl group |
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cystinuria
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defect in PCT AA transportor for cystiene, ornithine, lysince, arginine.
cystine kidney stones tx with acetazolamide |
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maple syrup urine dz
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alpha ketoacid dehydrogenase
cannot degrade branched AA: -isoleucine -leucine -valine |
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Hartunup dz
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defective neurtal AA transporter on renal and GI cells
tryptophan in urine PELLAGRA |
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von gierkes enzyme
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glucose 6 phosphatase
no gluconeogenesis no glycogenolysis |
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von gierkes findings
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severe fasting hypoglycemia
lots of glycogen in liver increased blood lactate hepatomegaly hyperlipidemia hyperuricemia |
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pompes enzyme
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lysosomal alpha-1,4-glucosidase
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pompes findings
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cardiomegaly
systemic findings diaphragm weakness Pompes trashes the Pump - heart, liver, muscle |
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cori's enzyme
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debranching enzyme
alpha-1,6-glucosidase |
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cori's findings
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milder form of von gierke's
normal lactate levels and uric acid hepatomegaly hyperlipidemia gluconeogenesis is intact |
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McArdles enzyme
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skeletal muslce glycogen phosphorylase
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McArdle's findings
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increased glycogen in muscle
-cannot break it down -cramps myoglobinuria with strenuous exercise |
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fabry's disease
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alpha galactosidase A
accumulates ceramid trihexoside peripheral neuropahy angiokeratomas CV/renal dz |
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gaucher's disease
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beta-glucocerebrosidase
glucocerebroside accumulates HSM femur aseptic necrosis bone crises |
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niemann-pick disease
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sphingomyelinase
sphingomyelin accumulates neurodegeneration HSM cherry red macula foam cells |
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Tay-Sachs
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hexasaminidase A
GM2 ganglioside accumulates neurodegeneration development delay cerry red macula onion skin lysosomes NO HSM (like picks) |
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Krabbe's disease
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galactocerebrosidase
galactocerebroside accumulates peripheral neuropathy development delay optic atrophy globoid cells |
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metachromatic leukodystrophy
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arylsulfatase A
cerebroside sulfate accumulates central and peripheral demyelination ataxia dementia |
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hurler's syndrome
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alpha-L-iduronidase
heparan sulfate, dermatan sulfate accumulate A mucopolysaccharidoses development dely gargoylism airway obstruction corneal clouding HSM |
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hunters syndrome
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iduronate sulfatase
heparan sulfate, dermatan sulfate accumulate A Mucopolysaccharidoses mild hurlers + aggressive behavior NO CORNEAL CLOUDING |
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carnitine deficiency
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can' transport LCFAs into mito
toxic accumulation weakness hypotonica HYPOKETOTIC HYPOGLYCEMIA |
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Acyl-CoA dehydrogenase deficiency
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increase in dicarboxylic acids
decrease in glucose and ketones |
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acetoacetate and Beta hydroxybutyrate
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what AAs and FAs are metabolized to in the liver
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when arachodonic acid becomes essential
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witth the absence of essential FA linoleic acid
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B2
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riboflavin
FAD, FMN (redox rxns) |
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B5
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pantothenic acid
CoA |
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B12
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Cobalamin
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B vitamins stored in liver
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B 12 and folate
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B7
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biotin
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thiamind deficiency
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Beri Beri
impaired glucose breakdown ATP depletion brain and heart affected first |
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B2 deficiency
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riboflavin
cheilosis corneal vascularization |
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B3 deficiency
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can be caused by :
Hartnup dz (no tryp transporters) INH (decreased B6) malignant carcinoid syndrome (increaed tryptophan metabolism |
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B5 deficiency
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dermatitis
enteritis alopecia adrenal infufficiency |
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B6 deficiency
|
convulsions
hyperirritability peripheral neuropathy sideroblastic anemia inducible by INH and OCP |
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B12 reactions
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homocysteine to met
methylmalonyl-CoA to succinyl-CoA schilling test |
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biotin fx and deficiency
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cofactor for carboxylation enzymes
Rare. dermatitis alopecia enteritis caused by xs egg white or abx |
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labs in a vitamin K deficiency
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increased PT, PTT
normal BT |
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lysosomal storage disease a/w renal failure
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Fabry's
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lysosomal storage diseases a/w early death
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Tay sachs
neiman pick krabbes |
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lysosomal storage dz that is demyelinating
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metachromatic leudodystrophy
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I cell disease s/s
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corneal clouding
course facies HSM restricted joints maybe MR |
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G1-->S
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Cyclin D activates CDK4
Rb gets phosphorylated Rb released from E2F E2F unbound allows for cell to do the things it needs to do in S phase Cyclin E activates CDK2 cell is allowed to progress to S |
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G2-->M
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Cyclin A-CDK2 complex does prophase
Cyclin B-CDK1 breaks down nuclear enevelope |
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shifting the hgb curve left
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DECREASED
H+ 2,3 DPG temp |
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shifting the hgb curve rgith
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INCREASED
H+ 2,3 DPG Temp |
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roles of TPP
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pyruvate --> acetylCoA
-pyruvate dehydrogenase alphaketoglutarate-->succiny CoA -alpha-ketoglutarate dhase ribose5P --> glyceraldehyde3p -trasketolase (in HMP) |
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muscle biopsy:
high glycogen high fructos-6-phosphate low pyruvate |
PFK-1 deficiency
|
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amino acid precursor of creatinine
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arginine
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amino acid precursor of NO
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arginine
|
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amino acid precursor of heme
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glycine
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rate limiting step of bile acid synthesis
|
7 alpha hydroxylase
|
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A-I apolipoprotein fx
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Activates LCAT
|
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B-100 apo fx
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Binds LDL receptor
mediates VLDL secretion |
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C-II apo fx
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Cofactor for LPL
C-III inhibits it |
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B-48 apo fx
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chylomicro secretion
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Apo E fx
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Extra (remnant) uptake
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