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Biochemistry

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1. What are the 3 AR forms of homocystinuria
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Adds 2 carbon with the help of biotin
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Fed

2. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
Alpha 1 -6 and alpha 1 -4
Change resulting in early stop codon
FAP
Oligomycin

3. How do you diagnose CFTR
Inc Cl - in sweat
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Glycogenolysis to form glucose
Microarrays

4. What is the RDE of glycogenolysis
Glycogen phosphorylase
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
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Mebendazole/thiabendazole

5. What substance inside the cell reduces glutatione
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Adds an inorganic phosphate onto substrate without using ATP
NADPH
The triphosphate bond

6. What does vit B3 def result in
P2 +2pq+ = 1
Rb and p53
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Wobble

7. How do stable (quiescent) cells grow and regenerate and What are examples
Specific glycosylases - AP endonuclease
Actin and myosin
Active secretion in lungs and GI - reabsorbs in skin
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes

8. In a marathon Where does energy come from
Krabbes - galactocerebrosidase - galactocerebroside - AR
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
ATP - citrate
Glycogen and FFA oxidation; glucose conserved for final sprinting

9. What is the RDE of ketogenesis
HMG- CoA synthase
Pyruvate to oxaloacetate (3C to 4C)
Liver and leafy veggies
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase

10. How does warfarin work
Tryosine hydroxylase
Vit K antagonist
Coenzyme A - lipoamide
Asp and Glu

11. What does the addition of mannose -6 phosphate do
Not all individuals with a mutant genotype show the mutant phenotype
Accelearted muscle breakdown
RER
Targets the proteins for lysosome

12. What does the start codon code for in eukaryotes and prokaryotes
Diphyllobothrium latum
Mcardle's - skeletal muscle glycogen posphorylase
TTP
Eu - methionine - pro - formyl - methionine

13. What causes B12 def
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
75 to 90 - cloverleaf
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR

14. In eukaryotes - What does RNA poly I make
Eu - methionine - pro - formyl - methionine
Tuberous sclerosis
RRNA
Neuralgia

15. What does a defective Cl channel do
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
Dec methionine - inc cystiene - inc B12/folate
Enhancers
Secretion of abnl thick mucus that plugs lungs - pancreas - liver

16. What step of uric acid synthesis does xanthine oxidase catalyze
ATP hyrdolysis couple to energetically unfavorable rxns
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Hypoxanthine to xanthing and xanthine to uric acid

17. What enzymes metabolize fatty acids and amino acids
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
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
Acetoacetate and beta hydroxybutyrate
Cyclin dependent kinases;constitutive and inactive

18. What do the single stranded binding proteins do
Purines= A - G pyrimidine = C - T (U)
Palate - facial and cardiac defects
Glycogen synthase
Prevent strands from reannealing

19. How does ethanol induce hypoglycemia
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
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
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Arginine

20. What is the RDE of fatty acid synthesis
Microtubules
Acetyl - CoA carboxylase (ACC)
Inc CPK and muscle biopsy
Hereditary spherocytosis

21. What is disulfiram used for
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Wrinkles and acne
Each codon specifies only 1 amino acid

22. What is the amino acid precursor for catecholamines
Consesus sequenec of base pairs
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Glucose 6 phosphate dehydrogenase (G6PD)
Phenylalanine

23. What two cells are particularly rich in RER
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Epithelial cells
Mucus secreting globlet cells and antibody secreting plasma cells
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms

24. what findings are associated with marfans
3' end (with CCA)
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
AMP - fructose 2 -6 BP
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

25. protein malnutrition resulting in skin lesions - edema and liver malfxn
32 - malate aspartate shuttle
Kwashiorkor - small child with swollen belly
5' of the incoming nucleotide
Schilling test

26. In which single strand DNA repair mechanism do specific endonucleases release the oligonucTIDE containing bases and DNA poly and ligase fill and reseal - and what disease occures when this is mutated
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Protective against malaria

27. What kind of branches do glycogen branches have
Alpha 1 -6 and alpha 1 -4
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Muscle
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate

28. Why is albinism inheritnace varialbe due to...
Locus heterogeneity - ocular albinism is x- linked recessive
NADH - NADPH - FADH2
Seals.
Marfans

29. Outside the fibroblast What part of procollagen is cleaved and What is it transformed into
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Terminal regions - tropocollagen
No - its non homologous

30. progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly
Scrutinizes - hydrolyzes the bond
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Facial flushing

31. What are uncoupling agents
NF2 on chromosome 22
Diphyllobothrium latum
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
ATP and alanine

32. The pyruvate dehydrogenase complex serves In what reaction: products
Acetly- CoA - CO2 - NADH
Kwashiorkor - small child with swollen belly
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Seals.

33. Giving folate during early pregnancy is important to prevent what birth defects
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Essential fructosuria - fructokinase AR
Mutated dystrophin gene - less severe - adolescence
Neural tube

34. What is the Name and fxn of vit B12
Microarrays
L form
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Mebendazole/thiabendazole

35. How do glucagon/epi lead to glycogenolysis
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
G6PD
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Y shaped region along the DNA template where leading nad lagging strands are synthesized

36. What happens in vit B2 def
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Marasmus - muscle wasting
Inc glucagon - inc cAMP - inc PKA
SnRNPs

37. What is RNAi used for
DsRNA promotes degradation of target mRNA knocking down gene expression
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
II - VII - IX - X (1972) protein C and S
Proline and lysine - vit C

38. What does a western blot use for its sample
Protein
RRNA
VMA
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

39. Acetyl - CoA carboxylase catalyzes what rxn
Coenzyme A - lipoamide
Acetyl - CoA to malonyl - CoA (2C to 3C)
Reads usual codon but inserts wrong AA
Antigen - antibody reactivity - can look for antigen or antibody in patients blood

40. What causes Down syndrome
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Anabolic processes as a supply of reducing equivalents
Uses ATP to add high energy phophate group onto substrate

41. What is codominance and give an example
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Proton gradient
Neither of 2 alleles is dominant - blood groups

42. Where is fructose 1 -6 bisphosphatase found and What does it do
Cytosol - F 1 -6 BP to fructose 6 Phosphate
CGG
B100 and E
Enhancers

43. What does apoB100 do
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Binds to LDL receptor - mediates VLDL secretion
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1

44. What are pyrimidines made from
Orotate precursor - with PRPP added later
Carnitine acyltransferase I
Krabbes - galactocerebrosidase - galactocerebroside - AR
Inhibits the Na/K pump by binding the K side

45. What is the energy source for translocation
GTP
PMNs
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Dermatitis - glossitis - and diarrhea

46. Type II cartilage
Nonsense > missense > silent
CarTWOlage
Ca/calmodulin in muscle to coordinate with muscle activity
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

47. What does Citrate Is Krebs starting substrate for making oxaloacetate
The triphosphate bond
After citruline
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact

48. What does inc phenylalanine lead to...
Phenylketones in urine
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Glucose -6 phosphate
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1

49. What does a kinase do
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Particular sequence of DNA where replicatino begins - may be single of multiple
Uses ATP to add high energy phophate group onto substrate
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver

50. How many nucTIDEs is a tRNA and What does the secondary sturcture form
No
Kwashiorkor - small child with swollen belly
Fibrofatty replacement of muscle - cardiac myopathy
75 to 90 - cloverleaf

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Biochemistry

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