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Biochemistry

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1. How is ATP used by the cell
Neurofibromatosis type 1 (von Recklinghausens disease)
ATP hyrdolysis couple to energetically unfavorable rxns
P2 +2pq+ = 1
ATP - citrate

2. What two enzymes are involved in EtOH metabolism
HMG- CoA synthase
EtOH dehydrogenase and acetaldehyde dehydrogenase
Creat a nick in the helix to relieave supercoils created during replication
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

3. What is chediak higashi
HMG- CoA reductase
Makes RNA primer on which DNA poly III can initiate replication
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Cleft palate - cardiac abnl - pregs test

4. What are the names and sources of the two types of vit D found in nature
Carnitine shuttle - acyl - coa from cyto to mito
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
AMP - fructose 2 -6 BP
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

5. What does the TCA cycle produce per 1 acetyl CoA
Neurons
Inc Cl - in sweat
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR

6. What do DNA topoisomerases do
Creat a nick in the helix to relieave supercoils created during replication
Infection - free radicals generated by inflammatory response
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Antioxidant - facilitates iron absorption by keeping iron in the Fe2+ reduced state - necessary for hydroxylation of proline and lysine collagen bridges - necessary for dopamine beta hydroxylase which converts DA to NE

7. protein malnutrition resulting in skin lesions - edema and liver malfxn
Kwashiorkor - small child with swollen belly
APKD1 on chromosome 16
Diphyllobothrium latum
Transfers methyl units

8. What are the clinical features of I cell diesase
Lactate
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Acetoacetate and beta hydroxybutyrate
ADPKD

9. What are the results of CF on male fertility
1/4 of offspring from 2 carrier parents are affected - often enzyme def - usually only seen in 1 generation - often more sever than AD - presents in childhood
CAG
Males are infertile due to bilateral absence of vas deferens
GTP

10. What is the RDE of fatty acid oxidation
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
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Carnitine acyltransferase I
APC on chromosome 5

11. What enzyme becomes essential in PKU
Tyrosine
Nissl body - enzyme and NTs
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Liver - also in kidney and gut epithelium

12. What metabolic rxns occur in the mitochondria
Lysine and leucine
Cre - lox system
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS

13. In what direction are DNA and RNA synthesized

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14. What does pancreatic lipase do
Removal of N or C termal propeptides from zymogens to generate mature proteins
Degredation of dietary TG in small intestine
Foliage - small reserve in liver - eat green leaves
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates

15. What are the function of vit C
Site of steroid synthesis and detoxification of drugs and poisons
Antioxidant - facilitates iron absorption by keeping iron in the Fe2+ reduced state - necessary for hydroxylation of proline and lysine collagen bridges - necessary for dopamine beta hydroxylase which converts DA to NE
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease

16. What does vit E def cause
Carbomoyl phosphate synthetase I
25OHD3
Acetyl - CoA to malonyl - CoA (2C to 3C)
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination

17. What is the Name and fxn of vit B5
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Alpha1 antitrypsin
Same AA - often base change in 3rd position of codon (tRNA wobble)
FAP

18. progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)

19. What are the water soluble vitamins - which ones are stored
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Fibrofatty replacement of muscle - cardiac myopathy
Ile - phe - thr - trp
Glycogen synthase

20. For eukaryotes - Where does replication begin?
Isocitrate dehydrogenase
Degradation of TG remaining in IDL
Acetyl - CoA
Consesus sequenec of base pairs

21. What chromosome is the NF gene on...
ADPKD
Dec DNA - dec lymphos leads to SCID
17 - 17 letters in von Recklinghausen
NAD+

22. Why enzyme breaks down elastin and what enzyme inhibits it
Met - val - arg his
Elastase - inhibited by alpha1 antitrypsin
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22

23. What substances directly inhibit electron transport chain
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Night blindness - dry skin
Purines= A - G pyrimidine = C - T (U)
Rotenone - CN- - antimycin A - CO

24. Where is acetaldehyde located
Alpha and beta tubulin - dimers have two GTP bound
Mitochondria
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
Mediates chylomicron secretion

25. what disease can cause pellagra
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Lysine and leucine
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)

26. What are the findings in Lesch - Nyhan
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
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
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22

27. What is the structure of elastin
Tropoelastin with fibrillin scafolding
NADH - NADPH - FADH2
Acetyl - CoA to malonyl - CoA (2C to 3C)
Superoxide dismutase

28. What ribosomes do prokaryotes have
30 - 50 - 70
Oxidized hemoglobin precipiated within RBCs
Inhibits 50S peptidyltransferase
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver

29. What two pathways is carbomoyl phosphate involved in - and what enzyme deficiency leads to a build of carbamoyl phosphate leading to what element in pyrimidine synthesis
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Catabolic processes to carry reducing equivalents away as NADH
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
RER

30. How do permanent cells grow and regenerate and What are examples of permanent cells
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora

31. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
FAP
Malonyl coa
Wernicke - korsakoff - dry and wet beriberi

32. What happens in termination of proteins synthesis
GTP
Stop codon is recognized by release factor - and completed protein is released from ribosome
Oxidizes substrate
SnRNPs and other proteins

33. How do tetracyclines work
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Bind 30s subunit preventing attachment of aminoacyl - tRNA
X linked frame shif mutation
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia

34. How doe NADH electrons from glycolysis and the TCA cycle enter the mitochondiria
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Result from phagocytic removal of heinz bodies my macs - G6PD def
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

35. What is the most abundant type of RNA
2 -4 DNP - aspirin
RRNA
Failure to track objects or develop a social smile
Vincritsine/vinblastine

36. What is the defect in fructose intolerance and What does it cause
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Targets the proteins for lysosome
Metanephrine
Cyclin dependent kinases;constitutive and inactive

37. What tissues have only aldose reductase
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Superoxide dismutase
Schwann cells - lens - retina - kidneys
Deamination

38. What is the complication of cystinuria
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
IMP precursor
Lysine and arginine
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility

39. In mismatch repair - which strand is recognized and In what hereditary syndrome is this defective
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
MRNA
Dopa decarboxylase
Unmethylated - newly synthesized - HNPCC

40. What creates the musty body odor in PKU
Disorder of aromatic amino acid metabolism
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Base + ribose
Adds an inorganic phosphate onto substrate without using ATP

41. Which aspect of the spliceosome do patients with lupus make antibodies against
PMNs
Wernicke - korsakoff - dry and wet beriberi
SnRNPs
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA

42. What rxn creates ATP
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Robertsonian translocation and mosaicism
Von hippel lindau - 3

43. What happens at the smooth ER
17 - 17 letters in von Recklinghausen
Oral uridine administration
Degradation of TG stored in adipocytes
Site of steroid synthesis and detoxification of drugs and poisons

44. What does primase do
Makes RNA primer on which DNA poly III can initiate replication
Lysine and arginine
High output cardiac failure - dilated cardiomyopathy - edema
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes

45. What components come together to make S- adenosyl methionine
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
After citruline
Cleft palate - cardiac abnl - pregs test
ATP and methionine

46. What is sorbitol - how and why is it made
Alcohol version of glucose - can trap glucose in cell - aldose reductase
APRT + PRPP
Neurofibromatosis type 1 (von Recklinghausens disease)
Locus heterogeneity - ocular albinism is x- linked recessive

47. ADPKD is associated with What additional conditions
Read from a fixed starting point as a continuous sequence of bases
32 - malate aspartate shuttle
40 - 60 - 80
Polycystic liver disease - berry aneurysm - mitral valve prolapse

48. What are Heinz bodies
N to C
Mediates chylomicron secretion
Oxidized hemoglobin precipiated within RBCs
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting

49. What stretch of DNA that alters gene expression by binding of transcription factors
NF2 on chromosome 22
Enhancers
Basement membrane or basal lamina
Methionine encode by only 1 codon (AUG)

50. what findings are associated with marfans
SAM
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Mediates extra remnant take up
Wrinkles and acne

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