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Biochemistry

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Answer 50 questions in 15 minutes.
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Match each statement with the correct term.
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1. What does CATCH 22 stand for and What causes is...
Prevent strands from reannealing
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Tuberous sclerosis
NADH - NADPH - FADH2

2. What happens in carnitine def
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Dermatitis - enteritis - alopecia - adrenal insuff
Hyperlipidemia
Lariat shape in order and remove intron precisely and join 2 exons

3. Name as many x- linked recessive disorders as you can

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4. What does the addition of mannose -6 phosphate do
Targets the proteins for lysosome
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
2 rings
5' of the incoming nucleotide

5. What happens in vit D def
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
CFTR gene - 7 - Phe 508
Williams syndrome

6. What does glycosylation of pro alpha chian yield and What is the structure
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Glycolysis and aerobic respiration
Procollagen - triple helix of 3 alpha collagen chains
Glycogenolysis to form glucose

7. What is Retin A used topically for
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Same as sprint + OXPHOS
Wrinkles and acne
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR

8. Where do you find elastin and What does it do
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Disease
Glutamine PRPP amidotransferase

9. Describe the location and fxn of the Na/K ATPase
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Nine
Neurofibromatosis type 1 (von Recklinghausens disease)

10. How many ATP are created by aerobic metabolism of glucose in the heart and liver via what shuttle
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
32 - malate aspartate shuttle
IMP precursor
Glutamine PRPP amidotransferase

11. cytoskeletal elements in micorvilli - muscle contracting fibers - cytokenesis - adherens jxns
Actin and myosin
RRNA
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Assistance of upper extremities to stand up

12. congenital microdeletion of short arm of chromosome 5 with microcephaly - moderate to severe mental retardation - high pitched crying/meying - epicanthal folds - cardiac abnl
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Active secretion in lungs and GI - reabsorbs in skin
Cri du chat
Protein

13. What are the fat soluble vitamins and What does their absorption depend on...
Schwann cells - lens - retina - kidneys
ATP and alanine
Neither of 2 alleles is dominant - blood groups
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

14. What are the results of CF on male fertility
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Must be both activated and inactivated for cell cycle to progress
Males are infertile due to bilateral absence of vas deferens
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais

15. 1 g of protein or cabrohydrate = ?kcal
Mebendazole/thiabendazole
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Four
Ribose 5- P to PRPP

16. What is the active form of vit D
Hyperlipidemia
Rotenone - CN- - antimycin A - CO
Foliage - small reserve in liver - eat green leaves
1 -25 OH2 D3 = calcitriol

17. What converts limit dextran to glucose
RNA
Eu - methionine - pro - formyl - methionine
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Debranching enzyme

18. What are the findings in orotic aciduria
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Binds to LDL receptor - mediates VLDL secretion
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def

19. What does beta oxidation do and Where does it occur
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Breaks down acyl - coa to acetyl coa groups in mito
Dopamine beta hydroxylase
B48 - AIV - CII - E

20. What is regeneration of methionine depedent on...
5' to 3'
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
B12 and folate

21. What are the characteristics of prader willi syndrome How does it occur
Occurs when cells in the body have different genetic makeup - can be germline mosaic - which may produce a disease that is not carried by parents somatic cells - lyonization - random X inactivation in females
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies

22. What does commaless - nonoverlapping genetic code refer to...
Alkaptonuria - may have debiliating arthralgias
MRNA
Read from a fixed starting point as a continuous sequence of bases
Sulfation

23. What does a southern blot use as its sample
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Inc vit B6
DNA
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP

24. What does vit B3 def result in
Adds an inorganic phosphate onto substrate without using ATP
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Essential fructosuria - fructokinase AR
2 rings

25. How do odd chain fatty acids participate in gluconeogenesis
Neural tube
Acetoacetate and beta hydroxybutyrate
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Rotenone - CN- - antimycin A - CO

26. What enzymes metabolize fatty acids and amino acids
Acetoacetate and beta hydroxybutyrate
FMR1 gene - methylation - associated with chromosomal breakage
Nonsense > missense > silent
Glutamate

27. Do balanced translocations cause abnl phenotype
TRNA
Adenosine to inosine
Supply sufficient glucose to brain and RBCs and to preserve protein
No

28. What apolipoprotein is on LDL
4 under the floor
B100
NADH - NADPH - FADH2
Cleft palate - cardiac abnl - pregs test

29. What is the pathway in the fed state leading to dec FBPase -2 and inc PFK-2
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Inc insulin - dec cAMP - dec PKA
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Supply sufficient glucose to brain and RBCs and to preserve protein

30. Where is EtOH dehydrogenase located
HDL
Cytosol
PMNs
Carnitine acyltransferase I

31. What is the treatment for cystathionine synthase def
Consesus sequenec of base pairs
Biotin
Dec methionine - inc cystiene - inc B12/folate
Liver - ovaries - seminal vesicles

32. Where is glucokinase found - What are the Km and Vmax - and what induces it
Liver - also in kidney and gut epithelium
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin

33. delivers hepatic TGs to peripheral tissue - secreted by liver
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Glucose - 2Pi - 2ADP - 2NAD+
VLDL
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

34. What enzyme converts phenylalanine to tyrosin
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
NADH - NADPH - FADH2
Phenylalanine hydroxylase
2pq

35. In which state is FBPase -2 active
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
LCAT (lecithin cholesterol acyltransferase)
Fasting
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive

36. The pyruvate dehydrogenase complex serves In what reaction: products
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Acetly- CoA - CO2 - NADH
Dec DNA - dec lymphos leads to SCID
Fasting

37. What does universal genetic code refer to and What are some exception
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Purines= A - G pyrimidine = C - T (U)
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Robertsonian translocation and mosaicism

38. What is the amino acid precursor for porphyrin and heme
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Myeloperoxidase
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Glycine

39. Formed and degradation of VLDL - delivers TGs and cholesterol to liver where they are degraded to LDL
Fasting
GTP
Citrate - acetyl coa from mito to cyto
IDL

40. What does apoE do
Mediates extra remnant take up
Antioxidant - protects RBCs and membrances from free radical damage
Liver - also in kidney and gut epithelium
30 - glycerol -3- phosphate shuttle

41. What enzyme converts glucose 1 p to UDP glucose
Stop codon is recognized by release factor - and completed protein is released from ribosome
Cytosol - F 1 -6 BP to fructose 6 Phosphate
More than 1 codon may code for the same amino acid
UDP glucose pyrophosphorylase

42. Type IV BM
4 under the floor
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Disease
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia

43. What are the reactants for glycolysis
Silencers
Glucose - 2Pi - 2ADP - 2NAD+
Alpha1 antitrypsin
FAP

44. What does the vimentin stain for
Adds an inorganic phosphate onto substrate without using ATP
Rotenone - CN- - antimycin A - CO
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Connective tissue

45. What is the physiologic role of dystrophin
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Cre - lox system
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Protein

46. Delivers dietary TGs to peripheral tissues - delivers cholesterol to liver in the form of remnants - mostly depleted of TGs - secreted by intestinal epith cells
Medial dorsal nucleus of thalamus - mamillary bodies
Anabolic processes as a supply of reducing equivalents
Chylomicrons
Grows slowly - collapses quickly

47. What are uncoupling agents
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Hepatic glycogenolysis - adipose tissue release of FFA - muslce and liver FFA - hepatic gluconeogenesis from peripheral tissue lactate and alanine and from adipose tissue glycerol and proprionyl - coA (odd chain FFA)
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Inc permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat

48. What substance accumulates in galactokinase def and What is the clinical picture
L form
1 kind with multiple subunits
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR

49. How does cytosine become uracil
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
PCR - denaturation - annealing - elongation
Deamination
O- oligosaccharaides

50. What inhibits pyruvate kinase
ATP and alanine
Flank pain - hematuria - HTN - progressive renal failure
Vincritsine/vinblastine
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles