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Biochemistry

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1. Which tumor suppresors inhibit G1 to S progression - where mutations result in unrestrained growth
Intermediate filaments
Antioxidant - protects RBCs and membrances from free radical damage
Disease
Rb and p53

2. What is the defect in cystinuria
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Prevent strands from reannealing

3. What occurs to oxaloacetate in starvation and DKA
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
SAM
ATP and methionine
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility

4. Very Poor Carbohydrate Metabolism stands for 4 of the glycogen storage diseases - What are thy

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5. What 3 syndromes are associated with vit B1 def
Elastase - inhibited by alpha1 antitrypsin
Histidine
Protective against malaria
Wernicke - korsakoff - dry and wet beriberi

6. What is the function of Zinc
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Conversion of NE to epi
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side

7. What enzyme converts glucose 1 p to UDP glucose
AR
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Palate - facial and cardiac defects
UDP glucose pyrophosphorylase

8. How does chloramphenicol work
Inhibits 50S peptidyltransferase
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
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Breaks down acyl - coa to acetyl coa groups in mito

9. How do odd chain fatty acids participate in gluconeogenesis
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
HMG- CoA (HMG- CoA to mevalonate
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Dermatitis - enteritis - alopecia - adrenal insuff

10. What is the Name and function of vit B1
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Intermediate filaments
GTP

11. Which step in the de novo purine and pyrimidine synthesis pathway requires aspartate - glycine - glutamine and THF
Ribose 5- P to PRPP
Ketone - methyl
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Makes RNA primer on which DNA poly III can initiate replication

12. Describe the location and fxn of the Na/K ATPase
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
Mebendazole/thiabendazole
Pyruvate - NAD+ - CoA

13. What neuroanatomical strutures are injured in wernicke - korsakoff
Medial dorsal nucleus of thalamus - mamillary bodies
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Terminal regions - tropocollagen

14. In what direction are DNA and RNA synthesized

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15. What sugar is sorbitol converted to and via what enzyme - and What can happen in cells lacking this enzyme
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Phosphorylation - glycosylation - hydroxylation
Vincritsine/vinblastine
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor

16. What can vit B3 be used to treat
Hyperlipidemia
Dermatitis - alopecia - enteritis
Fructose 1 -6 bisphosphate
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility

17. In a marathon Where does energy come from
Glycogen and FFA oxidation; glucose conserved for final sprinting
IDL
Purines= A - G pyrimidine = C - T (U)
Early in life - AR - inability to synthesize lipoproteins due to def in apoB100 and B48 - intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons - failure to thrive - steatorrhea - acanthocyt

18. What is the result of vit B5 def
Thymic - parathyroid and cardiac
More than 1 codon may code for the same amino acid
Dermatitis - enteritis - alopecia - adrenal insuff
B6

19. What shape does the RNA generate during splicing and why?
Each codon specifies only 1 amino acid
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Acetly- CoA - CO2 - NADH
Lariat shape in order and remove intron precisely and join 2 exons

20. What is the order of severity for the different types of mutations
Nonsense > missense > silent
Not all individuals with a mutant genotype show the mutant phenotype
Oxidized hemoglobin precipiated within RBCs
B12 and folate

21. Type I bone
Cofactor for LPL
BOne
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Phenylalanine

22. protein malnutrition resulting in skin lesions - edema and liver malfxn
Marasmus - muscle wasting
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Fructose 1 -6 bisphosphate
Kwashiorkor - small child with swollen belly

23. What are uncoupling agents
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
Oxidative and nonoxidative - no ATP produced or used
Polycystic liver disease - berry aneurysm - mitral valve prolapse
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

24. What is the exception to genetic redundancy
Defect in fibrillin
Cofactor for LPL
Methionine encode by only 1 codon (AUG)
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia

25. What ribosomes do eukaryotes have
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Sulfation
40 - 60 - 80
Medial dorsal nucleus of thalamus - mamillary bodies

26. In eukaryotes - What does RNA poly II make
Euchromatin
NADPH
Protective against malaria
MRNA

27. What CETP do
Uses ATP to add high energy phophate group onto substrate
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
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
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)

28. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
CFTR gene - 7 - Phe 508
VMA
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Assistance of upper extremities to stand up

29. What liberates glucose from glucose 6 P
Glucose 6 phosphatase
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Orotic acid to UMP

30. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Oxalacetate
Malapsorption syndromes like sprue or CF or mineral oil intake
Phosphofructokinase 1
Removal of N or C termal propeptides from zymogens to generate mature proteins

31. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Malabsorption and steatorrhea (ADEK)
Cleft palate - cardiac abnl - pregs test
Superoxide dismutase

32. What are the purely ketogenic amino acids
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Stop codon is recognized by release factor - and completed protein is released from ribosome
Only processed RNA
Leu - lys

33. fibrillin defect leading to connective tissue disorder affecting skeleton - heart - and eyes
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Marfans
5' of the incoming nucleotide
Degredation of dietary TG in small intestine

34. What is pleiotropy and given an example
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Glucose - 2Pi - 2ADP - 2NAD+
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
X- linked recessive

35. What does the golgi add to serine and threonine residues
1 kind with multiple subunits
Peroxide
Reads usual codon but inserts wrong AA
O- oligosaccharaides

36. What are the 3 AR forms of homocystinuria
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Biotin
Neuralgia

37. What is mosaicism and give an example
40 - 60 - 80
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
Skin
Heterochromatin = HighlyCondensed

38. What enzyme catalyzes the rxn from pyrvuate to Acetyl - CoA and what inhibits it
Core proteins
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Degradation of TG stored in adipocytes
VLDL

39. What is the RDE of the HMP shunt
Locus heterogeneity - ocular albinism is x- linked recessive
Degradation of TG stored in adipocytes
Glucose 6 phosphate dehydrogenase (G6PD)
1 -25 OH2 D3 = calcitriol

40. What enzyme becomes essential in PKU
Tyrosine
Covalent cross - linking by lysyl oxidase to make collagen fibrils
NAD+
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells

41. What is maternal PKU
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Glutamate
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Neuralgia

42. 90% of ADPKD cases are due to a mutation In what gene
APKD1 on chromosome 16
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Isocitrate dehydrogenase

43. What induces pyruvate kinase
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
F16BP
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
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

44. What happens in vit K def
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Carbomoyl phosphate synthetase I
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora

45. What is imprinting and give an example

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46. What happens in carnitine def
THFs
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Inc Cl - in sweat
Fibroblast

47. Type II collagen
Initiate chains
Cartilage - hyaline - vitreous body - nucleus pulposus
Oxidative and nonoxidative - no ATP produced or used
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

48. What feedback inhibits hexokinase
After citruline
Glucose -6 phosphate
Kidney - ears - eyes
FMR1 gene - methylation - associated with chromosomal breakage

49. What does biotin def cause
HGPRT - defective purine salvage - excess uric acid production
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Dermatitis - alopecia - enteritis
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR

50. What is the energy source for tRNA actication (charging)
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
ATP
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Night blindness - dry skin

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Biochemistry

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