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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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This is a study tool. The 3 wrong answers for each question are randomly chosen from answers to other questions. So, you might find at times the answers obvious, but you will see it re-enforces your understanding as you take the test each time.

1. What does glycosylation of pro alpha chian yield and What is the structure
Procollagen - triple helix of 3 alpha collagen chains
Degradation of TG stored in adipocytes
RRNA
NADPH

2. How is ATP used by the cell
Alpha and beta tubulin - dimers have two GTP bound
Rb and p53
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
ATP hyrdolysis couple to energetically unfavorable rxns

3. What shuttle is involved in fatty acid synthesis and What does it move From where to where
HMG- CoA (HMG- CoA to mevalonate
Nine
Citrate - acetyl coa from mito to cyto
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

4. Leysh - Nyhan syndrome is a defect in which enzyme and What are the biochemical results
Activates LCAT
HGPRT - defective purine salvage - excess uric acid production
Orotic acid to UMP
NF2 on chromosome 22

5. What is the activated carrier for Co2
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
F16BP
Biotin
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)

6. What are the findings in Down's syndrome
Breaks down acyl - coa to acetyl coa groups in mito
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
Robertsonian translocation and mosaicism
Uses ATP to add high energy phophate group onto substrate

7. What is the Hardy Weinberg disease prevalence equation
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
CGG
P2 +2pq+ = 1
Fibrofatty replacement of muscle - cardiac myopathy

8. What does the vimentin stain for
Cofactor for LPL
Only processed RNA
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Connective tissue

9. Which anti breast cancer drugs work on micortubules
Nine
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Paclitaxel
Nissl body - enzyme and NTs

10. What is the Name and fxn of vit B12
III - joint dislocation - anuerysms - organ rupture
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Oxidizes substrate
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

11. Give an example of a mitochondrial inherited disease
Carnitine shuttle - acyl - coa from cyto to mito
Acetly- CoA - CO2 - NADH
Proline and lysine - vit C
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies

12. How do aminoglycosides work
Antioxidant - facilitates iron absorption by keeping iron in the Fe2+ reduced state - necessary for hydroxylation of proline and lysine collagen bridges - necessary for dopamine beta hydroxylase which converts DA to NE
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
By inhibiting formation of the initiation complex and cause misreading of mRNA
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)

13. Where is glucose 6 phosphatase found and What does it do
Arginine
Colchicine
Huntingtons
In ER - glucose 6- P to glucose

14. What two proteins make up microtubules and how are they arranged
CG- 3 > AT-2 - More CG content - melting point goes up
Alpha and beta tubulin - dimers have two GTP bound
By inhibiting formation of the initiation complex and cause misreading of mRNA
Kidney - ears - eyes

15. What happens to oxaloacetate in alcholism
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Phosphorylation - glycosylation - hydroxylation
Protein kinase A

16. What components come together to make S- adenosyl methionine
Accelearted muscle breakdown
ATP and methionine
HDL
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)

17. Why enzyme breaks down elastin and what enzyme inhibits it
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
Elastase - inhibited by alpha1 antitrypsin
APRT + PRPP
Adenosine to inosine

18. How does OTC def present
ADPKD
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Evident in first few days of life - can present last onest - excess carbamoyl phosphate converted to orotic acid - orotic acid in blood and urine - dec BUN and symptoms of hyerpammonemia
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)

19. characterize mitochondrial inheritance
Fibrofatty replacement of muscle - cardiac myopathy
Transmitted only through mother - all offspring of affected females may show signs of disease
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
Isocitrate dehydrogenase

20. cell signaling defect of fibroblast growth factor (FGF) receptor 3 - results in dwarfism - short limbs - head/trunk nl size - associated with advanced paternal age
Inc glucagon - inc cAMP - inc PKA
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Von Gierke's - Pompe - Cori - McArdle
Achondroplasia

21. What tissues have only aldose reductase
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Stop codon is recognized by release factor - and completed protein is released from ribosome
Schwann cells - lens - retina - kidneys
Degradation of TG remaining in IDL

22. telangiectasia - recrrent epistaxis - skin discolorations - AVMs
Degradation of TG remaining in IDL
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Base + ribose + phosphate (3' -5') phosphodiester bond

23. What is the RDE of de novo pyrimidine synthesis
Malonyl coa
Carbomoyl phosphate synthetase II
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

24. What converts NE to epi
Dermatitis - glossitis - and diarrhea
Phenylethamolamine N methyl transferase
ATP hyrdolysis couple to energetically unfavorable rxns
Hypoxanthine to xanthing and xanthine to uric acid

25. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Transfers methyl units
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Oxalacetate
Arginine

26. developmental delay - gargoylism - airway obstruction - corneal clouding - hepatosplenomegaly
Glucose -6 phosphate
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
CAG - 4
Connective tissue

27. Delivers hepatic cholesterol to peripheral tissues - formed by LPL modification of VLDL in the peripheral tissue - taken up by target cells via RME
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Krabbes - galactocerebrosidase - galactocerebroside - AR
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
LDL

28. How do glucagon/epi lead to glycogenolysis
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
17 - 17 letters in von Recklinghausen
Transmitted only through mother - all offspring of affected females may show signs of disease

29. What inhibits the carnitine shuttle
Collagen
B12 and folate
N to C
Malonyl coa

30. What fxn does glucokinase serve in the liver
LCAT (lecithin cholesterol acyltransferase)
Read from a fixed starting point as a continuous sequence of bases
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Alcohol version of glucose - can trap glucose in cell - aldose reductase

31. bilateral acoustic schwannomas - juvenile cataracts
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
Lysine and leucine
NF2 on chromosome 22
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22

32. What does the start codon code for in eukaryotes and prokaryotes
1/4 of offspring from 2 carrier parents are affected - often enzyme def - usually only seen in 1 generation - often more sever than AD - presents in childhood
Eu - methionine - pro - formyl - methionine
Cleft palate - cardiac abnl - pregs test
Purines= A - G pyrimidine = C - T (U)

33. An inability to convert orotic acid to UMP would be caused by a deficiency either of which two enzymes

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34. What 3 syndromes are associated with vit B1 def
Glucose -6 phosphate
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Wernicke - korsakoff - dry and wet beriberi

35. What polar group does guanine have - and what non polar group does thymine have
Cyclin dependent kinases;constitutive and inactive
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
DsRNA promotes degradation of target mRNA knocking down gene expression
Ketone - methyl

36. What does osteogenesis imperfecta causes and why
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
Cleft palate - cardiac abnl - pregs test
CG- 3 > AT-2 - More CG content - melting point goes up
Makes RNA primer on which DNA poly III can initiate replication

37. What is the activated carrier for Acyl
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Schilling test
Coenzyme A - lipoamide
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22

38. What does DNA poly III do?

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39. How does ouabain work
Inhibits the Na/K pump by binding the K side
Result from phagocytic removal of heinz bodies my macs - G6PD def
Oxidizes substrate
Removes phosphate group from substrate

40. What is the energy source for translocation
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
GTP
1/4 of offspring from 2 carrier parents are affected - often enzyme def - usually only seen in 1 generation - often more sever than AD - presents in childhood
L form

41. bilateral - massive enlargement of of kidneys due to multiple large cysts
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Promotor - TATA box - and CAAT box - AT rich
High output cardiac failure - dilated cardiomyopathy - edema
ADPKD

42. For eukaryotes - Where does replication begin?
Carnitine acyltransferase I
CG- 3 > AT-2 - More CG content - melting point goes up
Consesus sequenec of base pairs
Antigen - antibody reactivity - can look for antigen or antibody in patients blood

43. Broadly - What can cause fat - soluble vitamin deficiencies
1 kind with multiple subunits
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Malapsorption syndromes like sprue or CF or mineral oil intake
Cri du chat

44. What are the findings in Lesch - Nyhan
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
BOne
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis

45. What is incomplete penetrence and give an example
Not all individuals with a mutant genotype show the mutant phenotype
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
Lysine and leucine
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses

46. What enzyme adds Cl - to the H202 to makes bleach
Enhancers
Anabolic processes as a supply of reducing equivalents
Myeloperoxidase
CTG

47. In what cell is collagen synthesis initiated
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
B100 and E
III - joint dislocation - anuerysms - organ rupture
Fibroblast

48. How does ethanol induce hypoglycemia
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
TRNA
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
Robertsonian translocation and mosaicism

49. What causes Down syndrome
Vit K antagonist
Ribos first then deoxyribos with ribonucleotide reductase
Each codon specifies only 1 amino acid
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21

50. benign asymptomatic condition with elevated levels of fructose in urine and blood - dz and enzyme
Robertsonian translocation and mosaicism
Essential fructosuria - fructokinase AR
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Ribos first then deoxyribos with ribonucleotide reductase