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Biochemistry

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1. decreases In what substances can cause PKU
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Each codon specifies only 1 amino acid
Inhibits the Na/K pump by binding the K side
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor

2. What apolipoproteins are on chylomicrons
B48 - AIV - CII - E
TTP
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
17 - 17 letters in von Recklinghausen

3. Of the four possible fates for pyruvate - which ends anaerobic glycolysis as in RBCs - leukocytes - kidney medulla - lens - testes and cornea
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
Lactate
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Alkaptonuria - may have debiliating arthralgias

4. What enzyme turns ROS to H2O2
Superoxide dismutase
Active secretion in lungs and GI - reabsorbs in skin
Antibiotic use or excessive ingestion of raw eggs
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

5. If two alleles are present - but the active allele is deleted - what happens
Brittle bone disease - most commonly lead AD with abnl type I collagen causing multiple fractures with minimal trauma - blue sclerae due to translucency of connective tissue over the choroid - hearing loss - dental imperfections due to lack of dentin
Disease
CG- 3 > AT-2 - More CG content - melting point goes up
APRT + PRPP

6. What causes Down syndrome
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Acetyl - CoA to malonyl - CoA (2C to 3C)
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
NAD+

7. What residues are hydroxylated in step 2 of collagen synthesis - and What does this require
If pt inherits or develops a mutation in a tumor suppresor gene - the complementary allele must be deleted/mutated before cancer develops - not true of oncogenes - retinoblastoma
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Proline and lysine - vit C
Transfers methyl units

8. Type I bone
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Core proteins
Not all individuals with a mutant genotype show the mutant phenotype
BOne

9. In prokaryotes - What does makes the different types of RNA
1 kind with multiple subunits
Binds to LDL receptor - mediates VLDL secretion
CGG
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss

10. What is the fxn of vit E
Foliage - small reserve in liver - eat green leaves
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Antioxidant - protects RBCs and membrances from free radical damage
HGPRT - defective purine salvage - excess uric acid production

11. What bone disorder has x linked dominant inheritance
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Vit K antagonist
Result from phagocytic removal of heinz bodies my macs - G6PD def

12. What happens in elongation of protein synthesis

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13. What are the 2 distinct phases of the HMP shunt and How many ATP are used and produced
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Oxidative and nonoxidative - no ATP produced or used
VMA
Each codon specifies only 1 amino acid

14. cardiomegaly - systemic findings leading to early death - dz and enzyme

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15. Which antifungal drugs work on microtubules
Histidine
Griseofulvin
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria

16. What are the symptoms of vit A excess
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Liver - also in kidney and gut epithelium
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis

17. RNA poly can't proofread - but What can it do
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Initiate chains
Glucose 6 phosphate dehydrogenase (G6PD)
Oxalacetate

18. congenital microdeletion of long arm of chromosoe 7 with findings of elfin facies - mental retardation - hypercalcemia - well developed verbal skills - extreme friendliness with strangers - cardiovascular problems
Williams syndrome
Histidine
TTP
Base + ribose

19. Do balanced translocations cause abnl phenotype
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
Phenytoin - MTX - and sulfonamides
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
No

20. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
Met - val - arg his
Inc glucagon - inc cAMP - inc PKA
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Isocitrate dehydrogenase

21. Where does gluconeogenesis primarily happen and What are other sites where the enzymes are located
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
CFTR gene - 7 - Phe 508
Liver - also in kidney and gut epithelium
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

22. What is the breakdown product of NE
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
LDL
VMA

23. How many nucTIDEs is a tRNA and What does the secondary sturcture form
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Pyruvate - NAD+ - CoA
75 to 90 - cloverleaf
Protective against malaria

24. What does the CFTR channel do in the lungs - GI tract and skin
Scrutinizes - hydrolyzes the bond
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Elastase - inhibited by alpha1 antitrypsin
Active secretion in lungs and GI - reabsorbs in skin

25. Mild Hurlurs + aggressive behavior no corneal clouding
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
SAM
Mitochondria

26. Describe the structure of cilia
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Paclitaxel
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
9+2 arrangement of microtubules

27. What does DNA ligase do
Seals.
17 - 17 letters in von Recklinghausen
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase

28. What is the fxn of vit D
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
ATP
N to C
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

29. Delivers hepatic cholesterol to peripheral tissues - formed by LPL modification of VLDL in the peripheral tissue - taken up by target cells via RME
LDL
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Rotenone - CN- - antimycin A - CO

30. What enzyme converts phenylalanine to tyrosin
ATP
Schilling test
Mediates chylomicron secretion
Phenylalanine hydroxylase

31. Which anti gout drugs work on microtubules
Colchicine
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
1 -25 OH2 D3 = calcitriol
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

32. I g fat = ? Kcal
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Nine
Liver - also in kidney and gut epithelium
Regulatory proteins that control cell cycle events; phase specific; activate CDKs

33. What is the RDE of gluconeogenesis
Glycogenolysis to form glucose
Fructose 1 -6 bisphosphate
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting

34. What is the RDE of glycogen synthesis
Mediates extra remnant take up
Glycogen synthase
5' to 3'
HVA

35. What does the addition of mannose -6 phosphate do
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
X- linked recessive
Targets the proteins for lysosome
Familial hypercholesterolemia - hyperlipidemia type IIA

36. ADPKD is associated with What additional conditions
Pyruvate - NAD+ - CoA
HMG- CoA (HMG- CoA to mevalonate
Polycystic liver disease - berry aneurysm - mitral valve prolapse
DNA

37. What are the functinos of vitamin A
Dermatitis - glossitis - and diarrhea
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
FISH
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive

38. What 3 syndromes are associated with vit B1 def
CGG
Wernicke - korsakoff - dry and wet beriberi
Adds an inorganic phosphate onto substrate without using ATP
ATP - citrate

39. What is the result of vit B5 def
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Mucus secreting globlet cells and antibody secreting plasma cells
Dermatitis - enteritis - alopecia - adrenal insuff
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty

40. What is the Name and function of vit B1
Neurofibromatosis type 1 (von Recklinghausens disease)
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
No
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase

41. What ribosomes do prokaryotes have
30 - 50 - 70
1 ring
Lariat shape in order and remove intron precisely and join 2 exons
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin

42. What does apoE do
Glucose 6 phosphatase
Mediates extra remnant take up
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
Q -

43. How does cytosine become uracil
Deamination
Flagella - cilia - mitotic spindles
Lactate
DsRNA promotes degradation of target mRNA knocking down gene expression

44. How is vit D stored
Seals.
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
25OHD3
Unwinds DNA template at replcation fork

45. Where is vit B12 found
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Transmitted only through mother - all offspring of affected females may show signs of disease
TRNA

46. Which enzyme involved in RNA synthesis does not require a template
Poly A polymerase - signal is AAUAA
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
GAA
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome

47. What does a southern blot use as its sample
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
DNA
Changed AA (convservative - new AA is similar in chemical structure)
Wernicke - korsakoff - dry and wet beriberi

48. In base excision repaire - what recognizes and removes damaged bases and what cuts the DNA to remove the empty sugar
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Specific glycosylases - AP endonuclease

49. What is pseudohypertrophy in the calf a result of - and What are the cardiac manifestations
Oxidizes substrate
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Purines= A - G pyrimidine = C - T (U)
Fibrofatty replacement of muscle - cardiac myopathy

50. What is the Name and function of vit B2
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Elastase - inhibited by alpha1 antitrypsin
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs

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Biochemistry

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