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Biochemistry

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1. What is the source of energy in the fasting state between meals
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
32 - malate aspartate shuttle
Glutamine PRPP amidotransferase
Intermediate filaments

2. For eukaryotes - Where does replication begin?
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Cytosol
Consesus sequenec of base pairs

3. What happens in the first stage of collagen synthesis - and Where does it happen
Inhibit DNA gyrase specific for prokaryotic topoisomerase
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
B6
X- linked recessive

4. What is the RDE of gluconeogenesis
1 -25 OH2 D3 = calcitriol
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Fructose 1 -6 bisphosphate
Alanine

5. What does hormone sensitive lipase do
African Americans and Asians
9+2 arrangement of microtubules
Dermatitis - alopecia - enteritis
Degradation of TG stored in adipocytes

6. What are covalent alterations
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
APC on chromosome 5
Phosphorylation - glycosylation - hydroxylation
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus

7. Why is G6PD def more common among patients of african decent
Protective against malaria
Dermatitis - alopecia - enteritis
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes

8. Which step in the de novo purine and pyrimidine synthesis pathway requires just aspartate
X- linked recessive
Orotic acid to UMP
SAM
Consesus sequenec of base pairs

9. What is the breakdown product of epi
PMNs
TRNA
Metanephrine
Liver - also in kidney and gut epithelium

10. What apolipoproteins are on chylomicrons
B48 - AIV - CII - E
Lysine and arginine
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
G6PD

11. What does a kinase do
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Phenylalanine hydroxylase
Lysine and leucine
Uses ATP to add high energy phophate group onto substrate

12. progressive neurodegeneration - hepatosplenomegaly - cherry red spot on macula - foam cells
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Phenylalanine hydroxylase
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Nature and severity of phenotype vary from 1 individual to another - NF type 1

13. When does aspartate enter the urea cycle
Adds an inorganic phosphate onto substrate without using ATP
Protein
Polycystic liver disease - berry aneurysm - mitral valve prolapse
After citruline

14. What does a carboxylase do
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Night blindness - dry skin
Adds 2 carbon with the help of biotin
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells

15. What does a western blot use for its sample
Protein
Binds to LDL receptor - mediates VLDL secretion
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive

16. What substance inside the cells replenishes NADPH
Elastase - inhibited by alpha1 antitrypsin
G6PD
Disease
Stored ATP - creatine phosphate - anaerobic glycolysis

17. What is codominance and give an example
Alanine
Griseofulvin
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
Neither of 2 alleles is dominant - blood groups

18. Is there any requirement for homology in NHEJ
CAG
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Liver hepatocytes and steroid producing cells of the adrenal cortex
No - its non homologous

19. What is the defect in I- hyperchylomicronemia
NADH - NADPH - FADH2
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Rb and p53

20. What does a decrease in decrease in NADPH lead to and why
Griseofulvin
High output cardiac failure - dilated cardiomyopathy - edema
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

21. What are the findings in Lesch - Nyhan
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Mucus secreting globlet cells and antibody secreting plasma cells
Oxidizes substrate
AMP - fructose 2 -6 BP

22. What is the rate limiting enzyme in cholesterol synthesis
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
HMG- CoA (HMG- CoA to mevalonate
Von Gierke's - Pompe - Cori - McArdle

23. What metabolic rxns occur in the mitochondria
Anabolic processes as a supply of reducing equivalents
B6
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
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

24. What happens in elongation of protein synthesis

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25. What causes patau's syndrome and What is it
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Inc insulin - dec cAMP - dec PKA
MEN - 2A and 2B with ret gene
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year

26. What is the complication of cystinuria
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
NF2 on chromosome 22
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond

27. Eukaryotic and prokaryotic DNA synthesis is blank and involves both blank and blank strands
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Unmethylated - newly synthesized - HNPCC
HVA
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects

28. What 3 steps in RNA processing occur after transcription

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29. What does Alports syndrome cause and why
APRT + PRPP
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Core proteins

30. characterize autosomal recessive inheritance
Dermatitis - alopecia - enteritis
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
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
ATP

31. Which carbon bears the triphosphate and the energy source for bond formation

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32. How does chloramphenicol work
Four
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Inhibits 50S peptidyltransferase

33. 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
AR
VMA
Inhibits lipoic acid - vomiting - rice water stools - garlic breath

34. What is the wernicke - korsakoff clinical picture
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
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Epithelial cells
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

35. Describe robertsonian translocation
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Free ribosomes
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22

36. What are the priorities for the body in fasting and starvation
Supply sufficient glucose to brain and RBCs and to preserve protein
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Stop codon is recognized by release factor - and completed protein is released from ribosome

37. What is the hardy weinber heterozygote prevalence
Medial dorsal nucleus of thalamus - mamillary bodies
Glucose -6 phosphate
Failure to track objects or develop a social smile
2pq

38. What does lactase deficiency cause
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Adds 2 carbon with the help of biotin
Prevent strands from reannealing

39. What is the Name and fxn of vit B12
Fasting
ATP
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

40. What is a silent mutation
Inc glucagon - inc cAMP - inc PKA
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
NF2 on chromosome 22
Same AA - often base change in 3rd position of codon (tRNA wobble)

41. What is disulfiram used for
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Tryosine hydroxylase

42. An inability to convert orotic acid to UMP would be caused by a deficiency either of which two enzymes

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43. What does amino acid catabolsim results in the formation of what?
Oxidative and nonoxidative - no ATP produced or used
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes

44. What residues are hydroxylated in step 2 of collagen synthesis - and What does this require
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Proline and lysine - vit C
Polyneuritis - symmetrical muscle wasting
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive

45. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Leu - lys
Exercise: inc NAD/NADH - inc ADP - inc Ca
PCR - denaturation - annealing - elongation

46. What is the fxn of vit D
Metanephrine
After citruline
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
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)

47. Mild Hurlurs + aggressive behavior no corneal clouding
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
Transfers methyl units
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Same AA - often base change in 3rd position of codon (tRNA wobble)

48. congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosine to fumarate leading to dark connective tissue - brown pigmented sclera - urine turns black on standing - dz and worst complication
Alkaptonuria - may have debiliating arthralgias
Phenylketones in urine
Cytosol
CG- 3 > AT-2 - More CG content - melting point goes up

49. What are the results of CF on male fertility
Anabolic processes as a supply of reducing equivalents
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Males are infertile due to bilateral absence of vas deferens
Leu - lys

50. benign asymptomatic condition with elevated levels of fructose in urine and blood - dz and enzyme
Epithelial cells
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Pseudomonas and s aureus
Essential fructosuria - fructokinase AR

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Biochemistry

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