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Biochemistry

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Answer 50 questions in 15 minutes.
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1. Where is glucokinase found - What are the Km and Vmax - and what induces it
Promotor - TATA box - and CAAT box - AT rich
Alpha1 antitrypsin
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
LDL

2. What causes Edwards syndrome and What is it
Hereditary spherocytosis
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year
African Americans and Asians
Assistance of upper extremities to stand up

3. What does hormone sensitive lipase do
Four
Degradation of TG stored in adipocytes
Cartilage - hyaline - vitreous body - nucleus pulposus
Blood - bone marrown - amniotic fluid - placental tissue

4. In which state is FBPase -2 active
Fasting
Facial flushing
CTG
Wernicke - korsakoff - dry and wet beriberi

5. What kind of branches do glycogen branches have
2 rings
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Phenylalanine
Alpha 1 -6 and alpha 1 -4

6. What polar group does guanine have - and what non polar group does thymine have
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Evident in first few days of life - can present last onest - excess carbamoyl phosphate converted to orotic acid - orotic acid in blood and urine - dec BUN and symptoms of hyerpammonemia
Ketone - methyl
F16BP

7. What does fomepizole do
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Protein kinase A
Glucose 6 phosphate dehydrogenase (G6PD)

8. What are the findings with homocystinuria and What amino acid is needs to be supplemented
DNA
Each codon specifies only 1 amino acid
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA

9. Which tumor suppresors inhibit G1 to S progression - where mutations result in unrestrained growth
Ribose 5- P to PRPP
Neuralgia
Rb and p53
ADPKD

10. What does a northern blot use as its sample
Conversion of NE to epi
APRT + PRPP
Changed AA (convservative - new AA is similar in chemical structure)
RNA

11. What does degenerate/rundant genetic code refer to...
Phenylalanine
GAA
More than 1 codon may code for the same amino acid
ATP and methionine

12. What is the defect in cystinuria
CAG
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Dermatitis - alopecia - enteritis

13. What are the purely ketogenic amino acids
Marfans
Assistance of upper extremities to stand up
Leu - lys
Type II

14. What is the physiologic role of dystrophin
Alkaptonuria - may have debiliating arthralgias
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Anchor muscle fibers - primarily in skeletal and cardiac muscle
ATP and alanine

15. What is the energy source for translocation
CGG
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Deamination
GTP

16. deletion of VHL gene on chromosome 3 leading to hemangioblastomas of retina/cerebellum/medulla bilateral RCC - dz and overexpression product
Specific glycosylases - AP endonuclease
P2 +2pq+ = 1
African Americans and Asians
Von hippel lindau - 3

17. What is the RDE of glycogen synthesis
More than 1 codon may code for the same amino acid
Glycogen synthase
SnRNPs and other proteins
Nissl body - enzyme and NTs

18. What is the TX for hyper ammonemia
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Unmethylated - newly synthesized - HNPCC
Fibrofatty replacement of muscle - cardiac myopathy
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels

19. What is chediak higashi
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Promotor - TATA box - and CAAT box - AT rich
Flank pain - hematuria - HTN - progressive renal failure
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy

20. How do microtubules grow and collapse
Antioxidant - protects RBCs and membrances from free radical damage
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
Grows slowly - collapses quickly

21. What does a dehydrogenase do
Oxidizes substrate
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Degredation of dietary TG in small intestine
2 -4 DNP - aspirin

22. What are ketone bodies made from - where are they metabolized and how are they excreted
Arginine
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
CGG
CG- 3 > AT-2 - More CG content - melting point goes up

23. antbiotic controlled promoter to induciblly manipulate genes at specific developmental points
Cre - lox system
Abnormal protein folding - degradation before reaching cell surface
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Marfans

24. Accurate base pairing is required only in the first two nucleotide positions of an mRNA codon - so conds differeing in the 3rd position may code for the same tRNA/AA due to degenerate genetic code
Wobble
TTP
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
NAD+

25. What defects characterize velocardiofacial syndrome
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Pyroxidine - converted to pyroxidine phosphate a cofactor used in transamination - decarboxylation - glycogen phosphorylase - cystathionine synthesis and heme synthesis - required for synthesis of niacin and tryptophan
Palate - facial and cardiac defects
RRNA

26. What is the complication of cystinuria
Ile - phe - thr - trp
Specific glycosylases - AP endonuclease
Protein
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond

27. How is ATP used by the cell
Not all individuals with a mutant genotype show the mutant phenotype
Hypoxanthine to xanthing and xanthine to uric acid
Thymic - parathyroid and cardiac
ATP hyrdolysis couple to energetically unfavorable rxns

28. In the chromatin structure - which histones form the octamer - and which ties the nucleosome beads together in a string?
B100 and E
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1

29. What do albinism - ARPKD - CF - glycogen storage diseases - hemochromatosis - mucopolysaccharidoses (except Hunters) PKU - sickle cell - sphingolipodoses (except Fabrys) thalassemias have in common
2pq
Autosomal recessive diseases
AMP - fructose 2 -6 BP
Supply sufficient glucose to brain and RBCs and to preserve protein

30. What is the purpose of the HMP shunt
ATP hyrdolysis couple to energetically unfavorable rxns
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Inhibits the Na/K pump by binding the K side
Scrutinizes - hydrolyzes the bond

31. What is the defect in II A familial hypercholesterolemia
Particular sequence of DNA where replicatino begins - may be single of multiple
Inhibits RNA polymerase II - found in death cap mushrooms
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Phenylethamolamine N methyl transferase

32. What is the Name and fxn of vit B12
Connective tissue
Orotic acid to UMP
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Proton gradient

33. Who typically has lactase def
5' to 3'
Asp and Glu
African Americans and Asians
Diphyllobothrium latum

34. Which cells are rich in smooth ER
ATP hyrdolysis couple to energetically unfavorable rxns
Liver hepatocytes and steroid producing cells of the adrenal cortex
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)

35. What are the findings in Down's syndrome
Mental retardation - flat facies - prominent epicanthal folds - simian crease - gap between 1st 2 toes - duodenal atresia - congenital heart disease (ASD) - inc risk of All and Alzheimers
Protein kinase A
More than 1 codon may code for the same amino acid
Glycolysis and aerobic respiration

36. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
Adds an inorganic phosphate onto substrate without using ATP
Cytosol
X linked frame shif mutation
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

37. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Same AA - often base change in 3rd position of codon (tRNA wobble)
25OHD3
CG- 3 > AT-2 - More CG content - melting point goes up

38. What are the complications/signs of familial hypercholesterolemia
GTP
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia

39. What does a mischarge tRNA do
Passed to glutamate - then to alanine enters blood - enters liver - coverted to pyruvate and transfers ammonium back to glutamate which gives it to the urea cycle
APC on chromosome 5
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Reads usual codon but inserts wrong AA

40. What does Alports syndrome cause and why
Same AA - often base change in 3rd position of codon (tRNA wobble)
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Sulfation

41. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Alanine
CG- 3 > AT-2 - More CG content - melting point goes up
Ribos first then deoxyribos with ribonucleotide reductase

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

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43. What does DNA ligase do
UDP glucose pyrophosphorylase
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users
Seals.

44. What enzyme adds Cl - to the H202 to makes bleach
Connective tissue
Myeloperoxidase
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation

45. How does OTC def present
Glucose -6 phosphate
Leu - lys
Liver - ovaries - seminal vesicles
Evident in first few days of life - can present last onest - excess carbamoyl phosphate converted to orotic acid - orotic acid in blood and urine - dec BUN and symptoms of hyerpammonemia

46. What happens do glycogen in skeletal muscle during exercise
Glycogenolysis to form glucose
Lactate
Lacks glucose 6 phophatase
Dec methionine - inc cystiene - inc B12/folate

47. What is linkage disequilibrium
Palate - facial and cardiac defects
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

48. What happens in vit B2 def
Colchicine
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Avidin
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis

49. What is the amino acid precursor for catecholamines
Phenylalanine
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Inc Cl - in sweat
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes

50. What is the energy source for tRNA actication (charging)
Collagen
ATP
Comlex II
Inc Cl - in sweat

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Biochemistry

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