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Biochemistry

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1. What is the activated carrier for electrons
Acetyl - CoA to malonyl - CoA (2C to 3C)
NADH - NADPH - FADH2
Ca/calmodulin in muscle to coordinate with muscle activity
Removes phosphate group from substrate

2. What does inc phenylalanine lead to...
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Phenylketones in urine

3. What is NADPH used for
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Anabolic processes as a supply of reducing equivalents
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Two

4. What part of the pre mRNA contains the actual genetic information coding for protein
Exons
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
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)

5. What happens in a B12 def
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Adds an inorganic phosphate onto substrate without using ATP
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora

6. What creates the musty body odor in PKU
Disorder of aromatic amino acid metabolism
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Palate - facial and cardiac defects
NADH - NADPH - FADH2

7. How many rings do purines have
Carnitine shuttle - acyl - coa from cyto to mito
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
2 rings
Karyotyping

8. What is the RDE of the HMP shunt
Glucose 6 phosphate dehydrogenase (G6PD)
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side
Flagella - cilia - mitotic spindles
Four

9. What happens at the smooth ER
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Site of steroid synthesis and detoxification of drugs and poisons
Oral uridine administration

10. What does biotin def cause
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Nonsense > missense > silent
Dermatitis - alopecia - enteritis
Glucose 6 phosphatase

11. What is the wernicke - korsakoff clinical picture
The triphosphate bond
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Mitochondria

12. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
Accelearted muscle breakdown
Dec DNA - dec lymphos leads to SCID
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
SnRNPs and other proteins

13. Which anticancer drugs work on microtubules
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Degradation of TG stored in adipocytes
Vincritsine/vinblastine
PCR - denaturation - annealing - elongation

14. What is locus heterogeneity and give an example
Ribos first then deoxyribos with ribonucleotide reductase
2 rings
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

15. What is the energy source for translocation
Adds 2 carbon with the help of biotin
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
GTP
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR

16. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
Cleft palate - cardiac abnl - pregs test
FAP
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
SnRNPs

17. What are the functinos of vitamin A
Krabbes - galactocerebrosidase - galactocerebroside - AR
CAG - 4
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles

18. What is the defect in cystinuria
Adds 2 carbon with the help of biotin
Proline and lysine - vit C
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Vincritsine/vinblastine

19. what findings are associated with marfans
African Americans and Asians
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Wernicke - korsakoff - dry and wet beriberi

20. What converts DOPA to dopamine
Dopa decarboxylase
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Tyrosine

21. What does commaless - nonoverlapping genetic code refer to...
Dermatitis - glossitis - and diarrhea
Read from a fixed starting point as a continuous sequence of bases
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
RRNA

22. Which step in the de novo purine and pyrimidine synthesis pathway requires aspartate - glycine - glutamine and THF
B12 and folate
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Ribose 5- P to PRPP
Binds 50S - blocking translocation

23. Acetyl - CoA carboxylase catalyzes what rxn
Poly A polymerase - signal is AAUAA
Acetyl - CoA to malonyl - CoA (2C to 3C)
Arginine
Transmitted only through mother - all offspring of affected females may show signs of disease

24. What is the source of energy in the fasting state between meals
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Failure to track objects or develop a social smile
Kwashiorkor - small child with swollen belly
Methionine encode by only 1 codon (AUG)

25. What converts dopamine to NE
Accelearted muscle breakdown
Dopamine beta hydroxylase
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
VMA

26. What is the function and name of vit B6
Inc CPK and muscle biopsy
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
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
Karyotyping

27. What is the activated carrier for aldehyddes
SnRNPs
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
THFs
TTP

28. What are the names and sources of the two types of vit D found in nature
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
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
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
CarTWOlage

29. What does the TCA cycle produce per 1 acetyl CoA
2 -4 DNP - aspirin
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
DsRNA promotes degradation of target mRNA knocking down gene expression
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss

30. Which kind of osteogenesis imperfecta is fata in utero or in neonatal period
Phosphofructokinase 1
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Type II
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact

31. How do stable (quiescent) cells grow and regenerate and What are examples
Acetyl - CoA
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Active secretion in lungs and GI - reabsorbs in skin
Site of steroid synthesis and detoxification of drugs and poisons

32. How do labile celss grow and regenerate and What are examples
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
FISH
Alpha - ketoglutarate dehydrogenase complex
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome

33. What are the complications/signs of familial hypercholesterolemia
Protein kinase A
P2 +2pq+ = 1
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Bind 30s subunit preventing attachment of aminoacyl - tRNA

34. What amino acid makes up most of the octamer
Lysine and arginine
Mediates chylomicron secretion
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
ATP and methionine

35. protein malnutrition resulting in skin lesions - edema and liver malfxn
Free ribosomes
P+q = 1
Kwashiorkor - small child with swollen belly
Wernicke - korsakoff - dry and wet beriberi

36. What enzyme turns ROS to H2O2
Uses ATP to add high energy phophate group onto substrate
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Zero
Superoxide dismutase

37. What two cells are particularly rich in RER
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Mucus secreting globlet cells and antibody secreting plasma cells
Lariat shape in order and remove intron precisely and join 2 exons
BOne

38. In what direction are DNA and RNA synthesized

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39. What is the activated carrier for phosphoryl
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Flagella - cilia - mitotic spindles
ATP
Glucose - 2Pi - 2ADP - 2NAD+

40. What is RNAi used for
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
DsRNA promotes degradation of target mRNA knocking down gene expression
Degradation of TG stored in adipocytes

41. What is the composition of urea and where do each part derive from
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
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

42. Outside the fibroblast What part of procollagen is cleaved and What is it transformed into
Terminal regions - tropocollagen
Muscle
VLDL
Dopamine beta hydroxylase

43. What is the fxn of vit D
Biotin
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

44. What is trimming
VLDL
Removal of N or C termal propeptides from zymogens to generate mature proteins
Disorder of aromatic amino acid metabolism
Antioxidant - protects RBCs and membrances from free radical damage

45. What enzyme esterifies 2/3 of plasma cholesterol
LCAT (lecithin cholesterol acyltransferase)
NADPH
SnRNPs
Disease

46. FAP is due to deletion On what gene On what chromosome
APC on chromosome 5
CGG
Phenylketones in urine
Zero

47. what gene is implicated in fragile X syndrome - and What is the mutation
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
FMR1 gene - methylation - associated with chromosomal breakage
Autosomal recessive diseases
ATP

48. Which antihelminthe drugs work on microtubules
Neither of 2 alleles is dominant - blood groups
Mebendazole/thiabendazole
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Histidine

49. What are the 2 distinct phases of the HMP shunt and How many ATP are used and produced
Microtubules
Oxidative and nonoxidative - no ATP produced or used
Exerts a dominant effect - a heterozygote produces a nonfxnal altered protein that also prevents the normal gene from functioning - mutation of Tx factor its allosteric site - nonfxning mutant can still bind DNA - preventing wild type Tx from binding
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production

50. What is a nonsense mutation
They yield only acetyl - CoA equivalents
Change resulting in early stop codon
Kwashiorkor - small child with swollen belly
Makes RNA primer on which DNA poly III can initiate replication

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Biochemistry

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