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Biochemistry

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1. What are the only purely ketogenic amino acids
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Myeloperoxidase
Lysine and leucine
Cartilage - hyaline - vitreous body - nucleus pulposus

2. What liberates glucose from glucose 6 P
Alanine
Particular sequence of DNA where replicatino begins - may be single of multiple
32 - malate aspartate shuttle
Glucose 6 phosphatase

3. What is NAD+ generally used for
Malabsorption and steatorrhea (ADEK)
Catabolic processes to carry reducing equivalents away as NADH
HDL
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage

4. What happens in carnitine def
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Rotenone - CN- - antimycin A - CO

5. What step of uric acid synthesis does xanthine oxidase catalyze
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Hypoxanthine to xanthing and xanthine to uric acid

6. What fxn does glucokinase serve in the liver
Cofactor for LPL
After citruline
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
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer

7. What are the 3 AR forms of homocystinuria
Purines= A - G pyrimidine = C - T (U)
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Heterochromatin = HighlyCondensed
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def

8. What does helicase do
Unwinds DNA template at replcation fork
Nature and severity of phenotype vary from 1 individual to another - NF type 1
CFTR gene - 7 - Phe 508
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase

9. In what cells do the respiratory burst occur
RNA
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
PMNs
AMP - fructose 2 -6 BP

10. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
Phenylethamolamine N methyl transferase
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
FAP
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step

11. What is the pathway in the fed state leading to dec FBPase -2 and inc PFK-2
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
African Americans and Asians
Removes phosphate group from substrate
Inc insulin - dec cAMP - dec PKA

12. What defects characterize DiGeorge syndrome
Collagen
Uses ATP to add high energy phophate group onto substrate
Must be both activated and inactivated for cell cycle to progress
Thymic - parathyroid and cardiac

13. What causes maple syrup urine disease and What does it lead to...
Nature and severity of phenotype vary from 1 individual to another - NF type 1
CGG
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
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

14. Is there any requirement for homology in NHEJ
Ile - phe - thr - trp
No - its non homologous
Skin
Dermatitis - alopecia - enteritis

15. Type I collagen
Changed AA (convservative - new AA is similar in chemical structure)
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
CAG - 4
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

16. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Euchromatin
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
30 - glycerol -3- phosphate shuttle

17. How do permanent cells grow and regenerate and What are examples of permanent cells
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
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

18. How does insulin inhibit glycogenolysis
IMP precursor
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Degredation of dietary TG in small intestine
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US

19. What is the result of vit B5 def
Transfers methyl units
Result from phagocytic removal of heinz bodies my macs - G6PD def
Neural tube
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais

20. What ribosomes do eukaryotes have
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
40 - 60 - 80
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first

21. What is the amino acid precursor for GABA and glutathione
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Activates LCAT
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
Glutamate

22. What inhibits pyruvate kinase
Rb and p53
Creat a nick in the helix to relieave supercoils created during replication
ATP and alanine
Anabolic processes as a supply of reducing equivalents

23. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
FISH
Inc glucagon - inc cAMP - inc PKA
Zero

24. What tissues have both enzymes of sorbitol metabolism
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Thymic - parathyroid and cardiac
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Liver - ovaries - seminal vesicles

25. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
CFTR gene - 7 - Phe 508
Glycolysis and aerobic respiration
Orotic acid to UMP
HMP shunt

26. What does the deletion of the dystrophin gene lead to...
Must be both activated and inactivated for cell cycle to progress
Accelearted muscle breakdown
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Cleft palate - cardiac abnl - pregs test

27. What are ketone bodies made from - where are they metabolized and how are they excreted
Two
Tuberous sclerosis
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Inhibit DNA gyrase specific for prokaryotic topoisomerase

28. What is loss of heterozygosity and give an example
5' to 3'
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
Tuberous sclerosis
Arg and his inc in histones Which bind negatively charged DNA

29. 1 g of protein or cabrohydrate = ?kcal
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Leu - lys
Four
Glycolysis and aerobic respiration

30. What is the result of vit B5 def
Dermatitis - enteritis - alopecia - adrenal insuff
Orotate precursor - with PRPP added later
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Initiate chains

31. What is dominant negative mutation and give an example
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
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Malabsorption and steatorrhea (ADEK)

32. In what direction are DNA and RNA synthesized

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33. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
ATP
Cri du chat
Post to neg
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase

34. How does ethanol induce hypoglycemia
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Glycogen phosphorylase
Muscle
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

35. What is the order of severity for the different types of mutations
Nonsense > missense > silent
Locus heterogeneity - ocular albinism is x- linked recessive
Degredation of dietary TG in small intestine
RNA poly II

36. What inhibits the carnitine shuttle
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
OTC has hyperammonemia - orotic aciduira does not
Malonyl coa

37. Which step in the de novo purine and pyrimidine synthesis pathway requires aspartate - glycine - glutamine and THF
Ribose 5- P to PRPP
Acetly- CoA - CO2 - NADH
Phenylethamolamine N methyl transferase
Mitochondria

38. delivers hepatic TGs to peripheral tissue - secreted by liver
VLDL
Neimann - pick - sphingomyelinase - sphingomyelin - AR
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
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

39. How are the many staggered tropocollagen molecules reinforced
Collagen
B48 - AIV - CII - E
Cyclin dependent kinases;constitutive and inactive
Covalent cross - linking by lysyl oxidase to make collagen fibrils

40. What creates the musty body odor in PKU
Disorder of aromatic amino acid metabolism
Orotic acid to UMP
Collagen
32 - malate aspartate shuttle

41. Which direction does kinesin go
Pseudomonas and s aureus
Neuralgia
Neg to pos
Procollagen - triple helix of 3 alpha collagen chains

42. What is the energy source in the fed state right after a meal
Tuberous sclerosis
Blood - bone marrown - amniotic fluid - placental tissue
Glycolysis and aerobic respiration
Niacin - constituent of NAD and NADP - derived from tryptophan

43. what disease can cause pellagra
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Griseofulvin
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)

44. What are the priorities for the body in fasting and starvation
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Supply sufficient glucose to brain and RBCs and to preserve protein
Proton gradient
Phenylketones in urine

45. What does a northern blot use as its sample
Glycine - aspartate - glutamine
B100
Glycolysis and aerobic respiration
RNA

46. What is a nonsense mutation
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
Change resulting in early stop codon
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
Nature and severity of phenotype vary from 1 individual to another - NF type 1

47. In which state is FBPase -2 active
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
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
Basement membrane or basal lamina
Fasting

48. 90% of ADPKD cases are due to a mutation In what gene
Neither of 2 alleles is dominant - blood groups
APKD1 on chromosome 16
Neurons
Achondroplasia

49. What is pleiotropy and given an example
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Krabbes - galactocerebrosidase - galactocerebroside - AR
Targets the proteins for lysosome
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations

50. What does the start codon code for in eukaryotes and prokaryotes
Proline and lysine - vit C
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Eu - methionine - pro - formyl - methionine
IDL

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Biochemistry

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