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60 Cards in this Set
- Front
- Back
deficiency leads to accumulation of carbamoyl phosphate
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ornithine transcarbamoylase
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megaloblastic anemia that does not improve w/ B12 or folic acid
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orotic aciduria
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antibodies to sliceosomal snRNPs
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lupus
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which cyclin complex breaks down nuclear envelope
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cyclin B - CDK1 (activated by cdc 25)
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which cyclin complex releases Rb from E2F?
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cyclin D - CDK4
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which cyclin complex allows progression to mitotic prophase?
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cyclin A - CDK1
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which cyclin complex allows progression to S phase
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cyclin E - CDK2
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coarse facial features, clouded corneas, restricted joint movement
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I cell disease
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pathogenesis of Chediak Higashi
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MT polymerization defect: decreased phagocytosis
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role of axonemal dynein
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ATPase: links peripheral 9 doublets --> bends cilium
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GFAP stains
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neuroglia
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elastin is rich in what 2 Aas
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proline, glycin
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role of fibrillin
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forms sheath of microfibrils surrounding elastin
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deletion of VHL gene results in what
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constitutive expression of HIF (a TF) and activation of angiogenic GFs
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type of mutation in Duchenne's
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frameshift --> deletion of dystrophin gene
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type of mutation Fragile X syndrome
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affects methylation + expression of FMR1
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role of FMRP protein
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in brain and testes: mRNA translation of axons + dendrites
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repeat in Huntingtons
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CAG
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repeat in myotonic dystrophy
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CTG
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repeat in fragile X
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CGG
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repeat in Friedriech's ataxia
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GAA
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pregnancy quad screen for Down syndrome
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decrease: AFP, estriol; increase: hCG, inhibin A
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which chromosome pairs commonly invovled in Robertsonian translocation
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13, 14, 15, 21, 22
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what happens in Robertsonian translocation
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long arms of 2 acrocentric centromeres fuse at centromere + 2 short arms are lost
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pathogensis of Wilson's syndrome
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microdeletion of long arm of Ch 7: elastin gene
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elfin facies, MR, hyperCa2+, friendliness w/ strangers, CV problems
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William's syndrome
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what tract affected in Friedriech's ataxia
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spinocerebellar
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which vitamin used to treat measles
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Vit A
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which 4 enzymes is TPP a cofactor for?
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pyruvate dehydrogenase, a ketoglutarate dehydrogenase, transketolase, branched chain AA dehydrogenase
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what vitamin is required for synthesis of niacin?
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vit B6
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SAM is made of what?
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ATP + methionine
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what enzymes is B7 a cofactor for
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carboxylation (pyruvate, AcetylCoA, proprionylCoA)
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role of pyruvate carboxylase
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pyruvate (3C) --> OAA (4C)
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role of acetylCoA carboxylase
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acetylCoA (2C) --> malonylCoA (3C)
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role of proprionylCoA carboxylase
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proprionylCoA (3C) --> methylmalonyl CoA (4C)
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what vitamin faciliate iron absorption? How?
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vit C: needs iron in reduced state
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what vitamin excess is seen in sarcoidosis
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D (increased activation by macrophages)
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rate limiting step of FA synthesis
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acetylCoA carboxylase
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rate limiting step of FA oxidation
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carnitine acyltransferase I
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what carries aldehydes
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TPP
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what carries acyl
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coenzyme A, lipoamide
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control of PFK-1
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(+) AMP, F26BP; (-) ATP, citrate
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control of pyruvake kinase
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(+) AMP; (-) ATP, alanine
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control of pyruvate dehydrogenase
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(-) ATP, AcetylCoA, NADH
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5 cofactors involved in pyruvate dehydrogenase complex
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TPP, FAD, NAD, CoA, lipoic acid
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treatment for pyruvate dehydrogenase deficiency
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ketogenic Aas: lysine, leucine
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what does the TCA cycle produce?
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3 NADH, 1 FADH2, 2 CO2, 1 GTP = 12 ATP
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what antibiotic directly inhibits mitochondrial ATPase
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oligomycin
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ketogenic Aas
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leucine, lysine
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Aas required during growth
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Arg, His
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Aas on histones
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Arg, Lys
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excess ammonia depletes what?
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alpha ketoglutarate
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drugs for hyperammonia
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benzoate, phenylbutyrate
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role of homogentisic acid oxidase
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breakdown of tyrosine to fumarate
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branched amino acids
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Ile, Leu, Val
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role of AI lipoprotein
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activates LCAT
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B100
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binds LDL receptor, mediates VLDL secretion
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CII
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activates lipoprotein lipase
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B 48
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mediates chylomicron secretion
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apoprotein E
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mediates extra remnant uptake
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