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Biochemistry

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Answer 50 questions in 15 minutes.
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1. What shuttle is involved in fatty acid synthesis and What does it move From where to where
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Cytosol
Citrate - acetyl coa from mito to cyto
Dermatitis - glossitis - and diarrhea

2. What are the irreversible enzymes of gluconeogenesis
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Achondroplasia
More than 1 codon may code for the same amino acid

3. What is the TX for pyruvate dehydrogenase deficiency
ATP hyrdolysis couple to energetically unfavorable rxns
DNA
Phosphorylation - glycosylation - hydroxylation
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine

4. What is the results of vit B1 def
Rotenone - CN- - antimycin A - CO
Eu - methionine - pro - formyl - methionine
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Terminal regions - tropocollagen

5. What is the rate limiting enzyme in cholesterol synthesis
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
30 - 50 - 70
Williams syndrome
HMG- CoA (HMG- CoA to mevalonate

6. What residues are hydroxylated in step 2 of collagen synthesis - and What does this require
Marasmus - muscle wasting
Carbomoyl phosphate synthetase II
Proline and lysine - vit C
Acetly- CoA - CO2 - NADH

7. what findings are associated with marfans
Basement membrane or basal lamina
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Chylomicrons
Oligomycin

8. What are Heinz bodies
Oligomycin
Oxidized hemoglobin precipiated within RBCs
Eu - methionine - pro - formyl - methionine
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

9. What ribosomes do prokaryotes have
30 - 50 - 70
Silencers
Adds 2 carbon with the help of biotin
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

10. What happens with dry beriberi
Familial hypercholesterolemia - hyperlipidemia type IIA
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Polyneuritis - symmetrical muscle wasting
Nonsense > missense > silent

11. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Marasmus - muscle wasting
HMG- CoA synthase
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

12. What tissue samples are used for karyotyping
Blood - bone marrown - amniotic fluid - placental tissue
Exons
Initiate chains
32 - malate aspartate shuttle

13. What enzyme adds Cl - to the H202 to makes bleach
Tyrosine
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Niacin - constituent of NAD and NADP - derived from tryptophan
Myeloperoxidase

14. What is incomplete penetrence and give an example
Oxidizes substrate
X- linked recessive
Not all individuals with a mutant genotype show the mutant phenotype
Mebendazole/thiabendazole

15. How do microtubules grow and collapse
Grows slowly - collapses quickly
Liver - ovaries - seminal vesicles
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Skin

16. characterize x linked recessive
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
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Cofactor for LPL
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase

17. What lab technique is use to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments
Inc vit B6
Changed AA (convservative - new AA is similar in chemical structure)
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Microarrays

18. What is the most abundant protein in the body
Collagen
SNP
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
GTP

19. What is the activated carrier for aldehyddes
Elastase - inhibited by alpha1 antitrypsin
TTP
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
F16BP

20. What drugs can cause folate def
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Phenytoin - MTX - and sulfonamides

21. Which are the acidic amino acids
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Asp and Glu
Result from phagocytic removal of heinz bodies my macs - G6PD def
Tropoelastin with fibrillin scafolding

22. What is the activated carrier for Acyl
Coenzyme A - lipoamide
Night blindness - dry skin
Hypoxanthine to xanthing and xanthine to uric acid
ATP

23. What are purines made from
IMP precursor
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Silencers
Muscle

24. The pyruvate dehydorgenase complex serves In what reaction: reactants
Pyruvate - NAD+ - CoA
Protein kinase A
Pseudomonas and s aureus
HVA

25. What do albinism - ARPKD - CF - glycogen storage diseases - hemochromatosis - mucopolysaccharidoses (except Hunters) PKU - sickle cell - sphingolipodoses (except Fabrys) thalassemias have in common
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
One
Autosomal recessive diseases
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis

26. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
Modifies N- oligosaccharides
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
32 - malate aspartate shuttle

27. characterize autosomal domint inheritance
Fibroblast
SNP
Oxidized hemoglobin precipiated within RBCs
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty

28. What is the amino acid precursor for porphyrin and heme
NF2 on chromosome 22
Glycine
Vit K antagonist
Glycogenolysis to form glucose

29. What does beta oxidation do and Where does it occur
Tryptophan
Breaks down acyl - coa to acetyl coa groups in mito
Ca/calmodulin in muscle to coordinate with muscle activity
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss

30. What are the findings in Lesch - Nyhan
Mediates extra remnant take up
Elastase - inhibited by alpha1 antitrypsin
BOne
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis

31. What does an umabiguous genetic code refer to...
Night blindness - dry skin
Each codon specifies only 1 amino acid
Dopa decarboxylase
Cytosol

32. What test is used for B12 def
ATP
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Schilling test
Tryosine hydroxylase

33. What does lipoprotein lipase do
Degredation of TG circulating in chylomicrons and VLDLs
Von Gierke's - Pompe - Cori - McArdle
Muscle
Sulfation

34. progressive neurodegeneration - hepatosplenomegaly - cherry red spot on macula - foam cells
Adds 2 carbon with the help of biotin
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted

35. How do cardia glycosides work
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
9+2 arrangement of microtubules
2 rings

36. What converts tyrosine to DOPA
Breaks down acyl - coa to acetyl coa groups in mito
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Tryosine hydroxylase
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

37. What does DNA poly III do?

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38. How is ammonium transported from muscle to the liver for urea cycle
Read from a fixed starting point as a continuous sequence of bases
III - joint dislocation - anuerysms - organ rupture
Phosphorylation - glycosylation - hydroxylation
Passed to glutamate - then to alanine enters blood - enters liver - coverted to pyruvate and transfers ammonium back to glutamate which gives it to the urea cycle

39. What does the addition of mannose -6 phosphate do
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Dermatitis - enteritis - alopecia - adrenal insuff
Targets the proteins for lysosome

40. What is the defectin IV - hypertriglyceridemia
ATP hyrdolysis couple to energetically unfavorable rxns
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Eu - methionine - pro - formyl - methionine

41. In what direction are DNA and RNA synthesized

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42. Where is vit A found in the diet
II - VII - IX - X (1972) protein C and S
Mcardle's - skeletal muscle glycogen posphorylase
Liver and leafy veggies
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

43. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
MRNA - tRNA
After citruline
Proton gradient

44. What are the priorities for the body in fasting and starvation
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
SnRNPs and other proteins
Supply sufficient glucose to brain and RBCs and to preserve protein
DTMP

45. What tissues have both enzymes of sorbitol metabolism
Liver - ovaries - seminal vesicles
Inc Cl - in sweat
Glycolysis and aerobic respiration
VLDL

46. Delivers dietary TGs to peripheral tissues - delivers cholesterol to liver in the form of remnants - mostly depleted of TGs - secreted by intestinal epith cells
Must be both activated and inactivated for cell cycle to progress
Chylomicrons
Night blindness - dry skin
Glycolysis and aerobic respiration

47. What are the names and sources of the two types of vit D found in nature
Breaks down acyl - coa to acetyl coa groups in mito
ADPKD
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin

48. What happens in vit K def
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
RNA poly II
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Grows slowly - collapses quickly

49. What does apoB100 do
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Binds to LDL receptor - mediates VLDL secretion
1 -25 OH2 D3 = calcitriol
PMNs

50. What does the golgi do to sugars in proteoglycans and of selected tyrosine on proteins
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
SAM
Sulfation
Phosphofructokinase 1

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Biochemistry

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