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Biochemistry

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Answer 50 questions in 15 minutes.
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Match each statement with the correct term.
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1. How do cardia glycosides work
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
FISH
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility

2. characterize autosomal domint inheritance
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Diphyllobothrium latum
Glycogen synthase
Stored ATP - creatine phosphate - anaerobic glycolysis

3. What are the functinos of vitamin A
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
NADPH
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Polyneuritis - symmetrical muscle wasting

4. What is the defect in cystinuria
OTC has hyperammonemia - orotic aciduira does not
Locus heterogeneity - ocular albinism is x- linked recessive
Inc glucagon - inc cAMP - inc PKA
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT

5. What does DNA poly I do?
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Histidine
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Polycystic liver disease - berry aneurysm - mitral valve prolapse

6. What is the TX for PKU
Alcohol version of glucose - can trap glucose in cell - aldose reductase
P+q = 1
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria

7. In eukaryotes - What does RNA poly III make
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
B6
TRNA
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21

8. What does a dehydrogenase do
Familial hypercholesterolemia - hyperlipidemia type IIA
Oxidizes substrate
Mediates extra remnant take up
Dopa decarboxylase

9. 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
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR

10. 90% of ADPKD cases are due to a mutation In what gene
Keep glutathione reduced so it can detoxify free radicals and peroxides
APKD1 on chromosome 16
Adds an inorganic phosphate onto substrate without using ATP
Wobble

11. What does vit E def cause
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Lacks glucose 6 phophatase
Histidine
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

12. RNA poly can't proofread - but What can it do
Initiate chains
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Protective against malaria

13. How is vit D stored
25OHD3
Not all individuals with a mutant genotype show the mutant phenotype
Connective tissue
ADPKD

14. What inhibits pyruvate kinase
Glucose -6 phosphate
Met - val - arg his
Glutamate
ATP and alanine

15. What are the characteristics of angelmans syndrome and How does it occur
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
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
Transfers methyl units
Paclitaxel

16. Which tumor suppresors inhibit G1 to S progression - where mutations result in unrestrained growth
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Nine
PCR - denaturation - annealing - elongation
Rb and p53

17. What is used to diagnose muscular dystrophies
Tuberous sclerosis
1 kind with multiple subunits
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Inc CPK and muscle biopsy

18. What are the two transgenic strategies in mice
Each codon specifies only 1 amino acid
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Procollagen - triple helix of 3 alpha collagen chains
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

19. How many ATP are produced by anearobic glycolysis per molecule of glucose
Flank pain - hematuria - HTN - progressive renal failure
Two
Makes RNA primer on which DNA poly III can initiate replication
Procollagen - triple helix of 3 alpha collagen chains

20. In what direction are DNA and RNA synthesized

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21. How is Lesch Neyhan inherited
Blood - bone marrown - amniotic fluid - placental tissue
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
X- linked recessive

22. What is the active form of vit D
Von Gierke's - Pompe - Cori - McArdle
Niacin - constituent of NAD and NADP - derived from tryptophan
Inc glucagon - inc cAMP - inc PKA
1 -25 OH2 D3 = calcitriol

23. trinucleotide repeat for huntingtons
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
CAG

24. What reaction does adenosine deaminase normally catalyze
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Adenosine to inosine
Malapsorption syndromes like sprue or CF or mineral oil intake

25. What are the findings in PKU
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Inc vit B6
X linked frame shif mutation
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor

26. How is ATP used by the cell
Targets the proteins for lysosome
2pq
HMG- CoA (HMG- CoA to mevalonate
ATP hyrdolysis couple to energetically unfavorable rxns

27. What does a western blot use for its sample
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Protein

28. NADPH are used In what 4 things
Peroxide
Acetoacetate and beta hydroxybutyrate
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Terminal regions - tropocollagen

29. congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosine to fumarate leading to dark connective tissue - brown pigmented sclera - urine turns black on standing - dz and worst complication
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Alkaptonuria - may have debiliating arthralgias
Inhibit DNA gyrase specific for prokaryotic topoisomerase

30. In which direction is protein synthesized
N to C
THFs
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
X linked frame shif mutation

31. What produces NADPH
In ER - glucose 6- P to glucose
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
32 - malate aspartate shuttle
HMP shunt

32. Which cells are rich in smooth ER
Williams syndrome
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Liver hepatocytes and steroid producing cells of the adrenal cortex
Nine

33. What are the symptoms of vit A def
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
Phosphorylation - glycosylation - hydroxylation
Nine
Night blindness - dry skin

34. Inhibition of thymidilate synthase and and DHFR lead to decrease In what substance
DTMP
Tyrosine
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

35. Very Poor Carbohydrate Metabolism stands for 4 of the glycogen storage diseases - What are thy

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36. Outside the fibroblast What part of procollagen is cleaved and What is it transformed into
Alpha1 antitrypsin
Neurofibromatosis type 1 (von Recklinghausens disease)
Terminal regions - tropocollagen
No - its non homologous

37. Name as many x- linked recessive disorders as you can

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38. What does lipoprotein lipase do
Binds 50S - blocking translocation
P+q = 1
B100 and E
Degredation of TG circulating in chylomicrons and VLDLs

39. What substance accumulates in galactokinase def and What is the clinical picture
CFTR gene - 7 - Phe 508
No - its non homologous
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood

40. What does GFAP stain for
CGG
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Locus heterogeneity - ocular albinism is x- linked recessive
Neuralgia

41. Which end of the tRNA is the amino acid bound to...

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42. in a 100 meter sprint Where does energy come from
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
High output cardiac failure - dilated cardiomyopathy - edema
Stored ATP - creatine phosphate - anaerobic glycolysis

43. Where are FADH2 electrons transferred to...
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Comlex II
3' end (with CCA)
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons

44. What does vit B3 def result in
B6
Phenylalanine
Creat a nick in the helix to relieave supercoils created during replication
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia

45. What does inc phenylalanine lead to...
Phenylketones in urine
RRNA
1 -25 OH2 D3 = calcitriol
UGA - UAA and UAG

46. What do the single stranded binding proteins do
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Prevent strands from reannealing
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Oligomycin

47. What is I cell disease
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP

48. Give an example of a mitochondrial inherited disease
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
17 - 17 letters in von Recklinghausen
Liver and leafy veggies

49. What does arsenic do and What are th results of poisoning
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
Degradation of TG remaining in IDL
Orotate precursor - with PRPP added later
Inhibits lipoic acid - vomiting - rice water stools - garlic breath

50. What two pathways is carbomoyl phosphate involved in - and what enzyme deficiency leads to a build of carbamoyl phosphate leading to what element in pyrimidine synthesis
1 kind with multiple subunits
Niacin - constituent of NAD and NADP - derived from tryptophan
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
Degradation of TG stored in adipocytes