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Biochemistry

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1. What does apoB100 do
Changed AA (convservative - new AA is similar in chemical structure)
Marfans
25OHD3
Binds to LDL receptor - mediates VLDL secretion

2. What apolipoproteins are on IDL
B100 and E
Polycystic liver disease - berry aneurysm - mitral valve prolapse
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR

3. In which state is FBPase -2 active
Fasting
Activates LCAT
RRNA
Deamination

4. What enzyme results in classic galactosemia and What is the clinical
Silencers
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Medial dorsal nucleus of thalamus - mamillary bodies
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate

5. What activates the pyruvate dehydrogenase complex
HGPRT - defective purine salvage - excess uric acid production
Nonsense > missense > silent
Exercise: inc NAD/NADH - inc ADP - inc Ca
1 -25 OH2 D3 = calcitriol

6. How is Lesch Neyhan inherited
SAM
DsRNA promotes degradation of target mRNA knocking down gene expression
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE
X- linked recessive

7. What are the reactants for glycolysis
ATP
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Glucose - 2Pi - 2ADP - 2NAD+

8. What two proteins make up microtubules and how are they arranged
Inc CPK and muscle biopsy
N to C
Site of steroid synthesis and detoxification of drugs and poisons
Alpha and beta tubulin - dimers have two GTP bound

9. Delivers dietary TGs to peripheral tissues - delivers cholesterol to liver in the form of remnants - mostly depleted of TGs - secreted by intestinal epith cells
Inc glucagon - inc cAMP - inc PKA
Males are infertile due to bilateral absence of vas deferens
Chylomicrons
Carbomoyl phosphate synthetase II

10. What enzyme catalyzes the rxn from pyrvuate to Acetyl - CoA and what inhibits it
Tryptophan
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Adds 2 carbon with the help of biotin

11. What is used to diagnose muscular dystrophies
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Inc CPK and muscle biopsy
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor

12. What is the Name and function of vit B1
Skin
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway

13. Where is hexokinase found - What is its Km and Vmax and what uninduces it
Familial hypercholesterolemia - hyperlipidemia type IIA
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin

14. What are the 3 AR forms of homocystinuria
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Peroxide
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis

15. What are the mRNA stop codons
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
UGA - UAA and UAG
Changed AA (convservative - new AA is similar in chemical structure)
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

16. What residues are hydroxylated in step 2 of collagen synthesis - and What does this require
Pyruvate to oxaloacetate (3C to 4C)
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Proline and lysine - vit C
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility

17. Where are FADH2 electrons transferred to...
VLDL
Tyrosine
Comlex II
Tuberous sclerosis

18. When are glycogen reserves depleted
Liver hepatocytes and steroid producing cells of the adrenal cortex
After day 1
Adds an inorganic phosphate onto substrate without using ATP
Failure to track objects or develop a social smile

19. What does the TCA cycle produce per 1 acetyl CoA
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Alpha 1 -4 glucosidase

20. In the chromatin structure - which histones form the octamer - and which ties the nucleosome beads together in a string?
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
GAA
Inc glucagon - inc cAMP - inc PKA
Degradation of TG remaining in IDL

21. What is the rate determining enzyme (RDE) of glycolysis
Polyneuritis - symmetrical muscle wasting
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Phosphofructokinase 1
Modifies N- oligosaccharides

22. What is the source of energy in the fasting state between meals
Inc dicarboxylic acids - dec in glucose and ketones
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Actin and myosin
B100 and E

23. How many rings do pyrimidines have
Marfans
1 ring
Microtubules
Heterochromatin = HighlyCondensed

24. in a 100 meter sprint Where does energy come from
Microarrays
Glycogen synthase
B48 - AIV - CII - E
Stored ATP - creatine phosphate - anaerobic glycolysis

25. Milder form of type I with nl blood lactate levels - dz and enzyme

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26. What is the defectin IV - hypertriglyceridemia
Cartilage - hyaline - vitreous body - nucleus pulposus
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Arg - lys - his - arg is most basic - has has no charge at body pH
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

27. What is the fxn of vit E
Euchromatin
Antioxidant - protects RBCs and membrances from free radical damage
Cytosol
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis

28. peripheral neuropathy of hands/feet - angiokeratomas - CV/renal disease - dz - def enzyme - acc substrate - inherit
HDL
Von Gierke's - Pompe - Cori - McArdle
APKD1 on chromosome 16
Fabrys - alpha galactosidase A - ceramide trihexoside - XR

29. In a 1000 meter run - Where does energy come from
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Modifies N- oligosaccharides
Same as sprint + OXPHOS
Inhibits lipoic acid - vomiting - rice water stools - garlic breath

30. What is variable expression and What is an example
Polyneuritis - symmetrical muscle wasting
PCR - denaturation - annealing - elongation
Alpha and beta tubulin - dimers have two GTP bound
Nature and severity of phenotype vary from 1 individual to another - NF type 1

31. Inhibition of thymidilate synthase and and DHFR lead to decrease In what substance
HDL
DTMP
Phenylalanine
1 -25 OH2 D3 = calcitriol

32. What shape does the RNA generate during splicing and why?
Keep glutathione reduced so it can detoxify free radicals and peroxides
Lariat shape in order and remove intron precisely and join 2 exons
Sons of heterozygous mothers have 1/2 half chance of being affected - no male to male transmission - and often more severe in males - heterozygous females may be affected
Transmitted through both parents - affected mother may have affected children - affected father will have affected children

33. characterize x linked dominant
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Accelearted muscle breakdown
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy

34. What converts NE to epi
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Cartilage - hyaline - vitreous body - nucleus pulposus
Phenylethamolamine N methyl transferase

35. Describe the replication fork
Y shaped region along the DNA template where leading nad lagging strands are synthesized
VMA
RRNA
Adipse tissue stores - keton bodies become the main source of energy fo the brain and heart - after these are depleted - vital protein degradation accelerates - leading to organ failure and death

36. What does a kinase do
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Inhibits RNA polymerase II - found in death cap mushrooms
Uses ATP to add high energy phophate group onto substrate

37. What are the results of CF on male fertility
Cartilage - hyaline - vitreous body - nucleus pulposus
ATP hyrdolysis couple to energetically unfavorable rxns
Males are infertile due to bilateral absence of vas deferens
Stored ATP - creatine phosphate - anaerobic glycolysis

38. Outside the fibroblast What part of procollagen is cleaved and What is it transformed into
NADPH
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
GTP
Terminal regions - tropocollagen

39. In eukaryotes - What does RNA poly I make
Alpha - ketoglutarate dehydrogenase complex
P2 +2pq+ = 1
HMG- CoA synthase
RRNA

40. In which single strand DNA repair mechanism do specific endonucleases release the oligonucTIDE containing bases and DNA poly and ligase fill and reseal - and what disease occures when this is mutated
Nonsense > missense > silent
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Glycine - aspartate - glutamine
17 - 17 letters in von Recklinghausen

41. How does insulin inhibit glycogenolysis
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
FISH
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning

42. characterize mitochondrial inheritance
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Oligomycin
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Transmitted only through mother - all offspring of affected females may show signs of disease

43. What are the glucogenic/ketogenic amino acids
Infection - free radicals generated by inflammatory response
Ile - phe - thr - trp
SNP
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate

44. What are the clinical features of I cell diesase
Debranching enzyme
Vit K antagonist
Core proteins
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood

45. In base excision repaire - what recognizes and removes damaged bases and what cuts the DNA to remove the empty sugar
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Nissl body - enzyme and NTs
Specific glycosylases - AP endonuclease

46. Pts with albinism are at inc risk For what cancer
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)
Biotin
Skin
Glycogenolysis to form glucose

47. What is the breakdown product of NE
VMA
Oral uridine administration
CGG
After day 1

48. What is the TX for pyruvate dehydrogenase deficiency
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Nine
NAD+
Binds 50S - blocking translocation

49. What is the RDE of cholesterol synthesis
HMG- CoA reductase
Deamination
Mcardle's - skeletal muscle glycogen posphorylase
Ca/calmodulin in muscle to coordinate with muscle activity

50. Severe fasting hypoglycemia - inc glycogen storage in liver - inc blood lactate - hepatomegaly - dz and def enzyme
Degradation of TG remaining in IDL
Griseofulvin
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Von gierkes - glucose 6 phosphatase

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Biochemistry

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