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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 enzyme catalyzes the rxn from pyrvuate to Acetyl - CoA and what inhibits it
CFTR gene - 7 - Phe 508
LDL
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs

2. peripheral neuropathy - developmental delay - optic atrophy - glopoid cells
Hypoglycemia
Krabbes - galactocerebrosidase - galactocerebroside - AR
Same AA - often base change in 3rd position of codon (tRNA wobble)
LCAT (lecithin cholesterol acyltransferase)

3. What does apoA 1 do
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death
Males are infertile due to bilateral absence of vas deferens
Activates LCAT
Dopa decarboxylase

4. What CETP do
CFTR gene - 7 - Phe 508
Defect in fibrillin
Dec methionine - inc cystiene - inc B12/folate
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)

5. What is the function and name of vit B6
Palate - facial and cardiac defects
Inhibits RNA polymerase II - found in death cap mushrooms
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
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

6. What reaction does adenosine deaminase normally catalyze
Acetyl - CoA carboxylase (ACC)
Cre - lox system
Isocitrate dehydrogenase
Adenosine to inosine

7. What is NAD+ generally used for
B48 - AIV - CII - E
Neimann - pick - sphingomyelinase - sphingomyelin - AR
17 - 17 letters in von Recklinghausen
Catabolic processes to carry reducing equivalents away as NADH

8. What does apoB100 do
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
More than 1 codon may code for the same amino acid
Binds to LDL receptor - mediates VLDL secretion

9. What is the structure of elastin
Mutated dystrophin gene - less severe - adolescence
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Antioxidant - protects RBCs and membrances from free radical damage
Tropoelastin with fibrillin scafolding

10. How does OTC def present
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Grows slowly - collapses quickly
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
Dopamine beta hydroxylase

11. How is ammonium transported from muscle to the liver for urea cycle
Breaks down acyl - coa to acetyl coa groups in mito
1 kind with multiple subunits
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
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

12. What converts DOPA to dopamine
Microarrays
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Removes phosphate group from substrate
Dopa decarboxylase

13. What does apoCII do
Mitochondria
Change resulting in early stop codon
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
Cofactor for LPL

14. In eukaryotes - What does RNA poly II make
MRNA
Activates LCAT
Pseudomonas and s aureus
Avidin

15. Which type of chromatin is condensed - transcriptionally inactive - sterically inaccessible?
Failure to track objects or develop a social smile
Two
Heterochromatin = HighlyCondensed
Oxidative and nonoxidative - no ATP produced or used

16. What enzyme results in classic galactosemia and What is the clinical
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Colchicine
Oxidative is irreversible

17. What rxn creates ATP
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
X- linked recessive

18. What clotting factors require vit K
ATP - citrate
DsRNA promotes degradation of target mRNA knocking down gene expression
II - VII - IX - X (1972) protein C and S
Hyperlipidemia

19. Wgat substances directly inhibit mitochondrial ATPase - causing an inc in proton gradient - no ATP because pump is stopped
Oligomycin
Flank pain - hematuria - HTN - progressive renal failure
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects

20. In what cells do the respiratory burst occur
Alpha 1 -4 glucosidase
PMNs
Phenylethamolamine N methyl transferase
Inc dicarboxylic acids - dec in glucose and ketones

21. What is the RDE of TCA cycle
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Isocitrate dehydrogenase
SnRNPs
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

22. What can excess vit B3 cause
Facial flushing
Autosomal recessive diseases
Debranching enzyme
Intermediate filaments

23. What does helicase do
Familial hypercholesterolemia - hyperlipidemia type IIA
Unwinds DNA template at replcation fork
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Purines= A - G pyrimidine = C - T (U)

24. Where is hexokinase found - What is its Km and Vmax and what uninduces it
Scrutinizes - hydrolyzes the bond
Schilling test
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Adenosine to inosine

25. What is NADPH used for
Kwashiorkor - small child with swollen belly
Anabolic processes as a supply of reducing equivalents
HMG- CoA synthase
Alpha 1 -6 and alpha 1 -4

26. What is a nonsense mutation
Foliage - small reserve in liver - eat green leaves
Change resulting in early stop codon
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

27. In what direction are DNA and RNA synthesized

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28. Type III collagen
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)

29. What causes Edwards syndrome and What is it
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
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
IMP precursor
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia

30. What does NADPH oxidase deficiency result in and why
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
GTP
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs

31. Where is vit A found in the diet
Liver and leafy veggies
APC on chromosome 5
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Eu - methionine - pro - formyl - methionine

32. What is the Name and function of vit B1
HMP shunt
Result from phagocytic removal of heinz bodies my macs - G6PD def
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Protein

33. What are the products for glycolysis
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Disease
Marfans
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase

34. caf
Antibiotic use or excessive ingestion of raw eggs
Neurofibromatosis type 1 (von Recklinghausens disease)
Four
Elastase - inhibited by alpha1 antitrypsin

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

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36. What is heteroplasmy
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
NF2 on chromosome 22
1 ring
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease

37. What does apoB48 do
Mediates chylomicron secretion
Ile - phe - thr - trp
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase

38. How is vit D stored
Exerts a dominant effect - a heterozygote produces a nonfxnal altered protein that also prevents the normal gene from functioning - mutation of Tx factor its allosteric site - nonfxning mutant can still bind DNA - preventing wild type Tx from binding
Eu - methionine - pro - formyl - methionine
Euchromatin
25OHD3

39. What does vit B3 def result in
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Cleft palate - cardiac abnl - pregs test
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer

40. Gene imprinting implies that How many alleles are active at a single locus
Arginine
Krabbes - galactocerebrosidase - galactocerebroside - AR
One
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted

41. What does primase do
Y shaped region along the DNA template where leading nad lagging strands are synthesized
UDP glucose pyrophosphorylase
Makes RNA primer on which DNA poly III can initiate replication
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase

42. Which antifungal drugs work on microtubules
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Griseofulvin
Glucose 6 phosphatase

43. What are the priorities for the body in fasting and starvation
Alcohol version of glucose - can trap glucose in cell - aldose reductase
APRT + PRPP
Supply sufficient glucose to brain and RBCs and to preserve protein
NADPH

44. What is Retin A used topically for
CGG
Wrinkles and acne
Pyruvate to oxaloacetate (3C to 4C)
Orotate precursor - with PRPP added later

45. What is the target of the 3' hydroxyl attack
30 - glycerol -3- phosphate shuttle
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
The triphosphate bond
Glucose 6 phosphate dehydrogenase (G6PD)

46. In which state is PFK-2 active
2pq
VLDL
Tropoelastin with fibrillin scafolding
Fed

47. What is the most abundant protein in the body
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Locus heterogeneity - ocular albinism is x- linked recessive
Collagen
Zero

48. What is the result of vit B5 def
Phenylketones in urine
Proline and glycine (non glycosylated forms)
Acetyl - CoA carboxylase (ACC)
Dermatitis - enteritis - alopecia - adrenal insuff

49. Which direction does dynein go
CFTR gene - 7 - Phe 508
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Inc dicarboxylic acids - dec in glucose and ketones
Post to neg

50. Type II cartilage
CarTWOlage
II - VII - IX - X (1972) protein C and S
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility