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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 3 syndromes are associated with vit B1 def
Polyneuritis - symmetrical muscle wasting
Wernicke - korsakoff - dry and wet beriberi
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Arginine

2. What does apoB48 do
Schwann cells - lens - retina - kidneys
Dec DNA - dec lymphos leads to SCID
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Mediates chylomicron secretion

3. What enzyme becomes essential in PKU
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Dec DNA - dec lymphos leads to SCID
Tyrosine
Four

4. What are the complications/signs of familial hypercholesterolemia
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
By inhibiting formation of the initiation complex and cause misreading of mRNA

5. How many rings do pyrimidines have
1 ring
By inhibiting formation of the initiation complex and cause misreading of mRNA
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia

6. A small proportion of Down syndrome is due to What two genetic events
Glutamate
4 under the floor
Dermatitis - glossitis - and diarrhea
Robertsonian translocation and mosaicism

7. What is the function and name of vit B6
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
THFs
Changed AA (convservative - new AA is similar in chemical structure)
In ER - glucose 6- P to glucose

8. What substances inhibit phosphofructokinase -1
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
ATP - citrate
Phenylalanine hydroxylase

9. What are the characteristics of angelmans syndrome and How does it occur
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
ATP
GTP

10. What substance in egg whites binds biotin
CAG - 4
Avidin
Familial hypercholesterolemia - hyperlipidemia type IIA
Alkaptonuria - may have debiliating arthralgias

11. telangiectasia - recrrent epistaxis - skin discolorations - AVMs
Cre - lox system
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
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Stop codon is recognized by release factor - and completed protein is released from ribosome

12. What is kartageners syndrome
GTP
Polyneuritis - symmetrical muscle wasting
NF2 on chromosome 22
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus

13. What makes up a nucleotide

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14. What is the complication of cystinuria
Scrutinizes - hydrolyzes the bond
Griseofulvin
Core proteins
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond

15. What converts tyrosine to DOPA
Makes RNA primer on which DNA poly III can initiate replication
Sucrose = glucose + fructose - lactose = glucose + galactose
Lacks glucose 6 phophatase
Tryosine hydroxylase

16. How is orotic aciduria inherited
Schilling test
AR
Promotor - TATA box - and CAAT box - AT rich
PCR - denaturation - annealing - elongation

17. What does the addition of mannose -6 phosphate do
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Colchicine
Pseudomonas and s aureus
Targets the proteins for lysosome

18. What is the activated carrier for electrons
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Dermatitis - enteritis - alopecia - adrenal insuff
Glucose -6 phosphate
NADH - NADPH - FADH2

19. Name 5 drugs that interfere with nucleotide synthesis
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Site of steroid synthesis and detoxification of drugs and poisons
Alpha and beta tubulin - dimers have two GTP bound
Polyneuritis - symmetrical muscle wasting

20. What apolipoprotein is on LDL
Proton gradient
Initiate chains
B100
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE

21. What is the function of Zinc
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
1 kind with multiple subunits
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O

22. What are the purely ketogenic amino acids
Leu - lys
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Protein kinase A
CTG

23. What does the golgi assemble proteoglycans from
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Alkaptonuria - may have debiliating arthralgias
Core proteins
AMP - fructose 2 -6 BP

24. What is the RDE of ketogenesis
HMG- CoA synthase
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Histidine
Von Gierke's - Pompe - Cori - McArdle

25. What is the results of vit B1 def
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

26. What does aminoacyl tRNA synthetase do the AA before and after it binds to tRNA - and what happens if it's the wrong the match
Specific glycosylases - AP endonuclease
SAM
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Scrutinizes - hydrolyzes the bond

27. What co - factors are required for the pyruvated dehydrogenase complex
Cre - lox system
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Microarrays

28. What is NADPH used for
Anabolic processes as a supply of reducing equivalents
Oxidative is irreversible
NF2 on chromosome 22
Hereditary spherocytosis

29. What produces NADPH
Von gierkes - glucose 6 phosphatase
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
HMP shunt
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step

30. What does degenerate/rundant genetic code refer to...
More than 1 codon may code for the same amino acid
Thymic - parathyroid and cardiac
Cri du chat
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL

31. What is RNAi used for
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
DsRNA promotes degradation of target mRNA knocking down gene expression
B-100 - CII and E

32. What is the amino acid precursor for catecholamines
Phenylalanine
Lactate
Protein
Carnitine acyltransferase I

33. How do aminoglycosides work
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Phenytoin - MTX - and sulfonamides
CAG - 4
By inhibiting formation of the initiation complex and cause misreading of mRNA

34. 90% of ADPKD cases are due to a mutation In what gene
APKD1 on chromosome 16
5' to 3'
Actin and myosin
DTMP

35. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
RER
Rotenone - CN- - antimycin A - CO
Dopa decarboxylase
Von gierkes - glucose 6 phosphatase

36. What substance inside the cells replenishes NADPH
SnRNPs
Cytosol
Fibrofatty replacement of muscle - cardiac myopathy
G6PD

37. What happens at the smooth ER
Euchromatin
Fibrofatty replacement of muscle - cardiac myopathy
P2 +2pq+ = 1
Site of steroid synthesis and detoxification of drugs and poisons

38. What happens do glycogen in skeletal muscle during exercise
Protective against malaria
SNP
Glycogenolysis to form glucose
HMG- CoA synthase

39. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Niacin - constituent of NAD and NADP - derived from tryptophan
X linked frame shif mutation
CarTWOlage

40. peripheral neuropathy of hands/feet - angiokeratomas - CV/renal disease - dz - def enzyme - acc substrate - inherit
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR

41. Type II collagen
O- oligosaccharaides
Bruton's agammaglobulinemia - wiskott - aldrich - fabrys disease - G6PD def - ocular albinism - Lesch - Nyhan syndrome - Duchenne and Becker Muscular Dystrophy - hunter's syndrome - hemophilia A and B
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Cartilage - hyaline - vitreous body - nucleus pulposus

42. What does the primary transcript combine with to form the spliceosome
Diphyllobothrium latum
Glycine
SnRNPs and other proteins
Glutamine PRPP amidotransferase

43. What is locus heterogeneity and give an example
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Alkaptonuria - may have debiliating arthralgias
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)

44. What activates the pyruvate dehydrogenase complex
Exercise: inc NAD/NADH - inc ADP - inc Ca
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Carbomoyl phosphate synthetase I
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA

45. How do labile celss grow and regenerate and What are examples
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE
Oligomycin
Creat a nick in the helix to relieave supercoils created during replication
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

46. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
CFTR gene - 7 - Phe 508
Y shaped region along the DNA template where leading nad lagging strands are synthesized
2pq
High output cardiac failure - dilated cardiomyopathy - edema

47. Why can't muscle produce in gluconeogenesis
Superoxide dismutase
Phenylalanine
Lacks glucose 6 phophatase
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

48. What is the RDE of cholesterol synthesis
Uses ATP to add high energy phophate group onto substrate
B-100 - CII and E
HMG- CoA reductase
AR

49. spheroid RBCs due to spectrin or ankyrin defect - hemolytic anemia - inc MHCH - splenectomy is curative
ATP and methionine
Hereditary spherocytosis
Glucose 6 phosphate dehydrogenase (G6PD)
Disorder of aromatic amino acid metabolism

50. What is the energy source in the fed state right after a meal
HMG- CoA (HMG- CoA to mevalonate
Glycolysis and aerobic respiration
HGPRT - defective purine salvage - excess uric acid production
SnRNPs and other proteins