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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. What does the golgi assemble proteoglycans from
Myeloperoxidase
Core proteins
Liver - also in kidney and gut epithelium
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side

2. What does the CFTR channel do in the lungs - GI tract and skin
VLDL
Active secretion in lungs and GI - reabsorbs in skin
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response

3. What causes B12 def
Must be both activated and inactivated for cell cycle to progress
Phenytoin - MTX - and sulfonamides
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
The triphosphate bond

4. What shuttle is used in fatty acid degredation and What does it move and From where to where
Asp and Glu
Activates LCAT
Carnitine shuttle - acyl - coa from cyto to mito
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine

5. What step of uric acid synthesis does xanthine oxidase catalyze
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Hypoxanthine to xanthing and xanthine to uric acid
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
ATP - citrate

6. What does commaless - nonoverlapping genetic code refer to...
APKD1 on chromosome 16
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
B100 and E
Read from a fixed starting point as a continuous sequence of bases

7. What does vit C def cause
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Degredation of dietary TG in small intestine

8. What are the findings in Lesch - Nyhan
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
CAG - 4
Fibrofatty replacement of muscle - cardiac myopathy
CAG

9. cardiomegaly - systemic findings leading to early death - dz and enzyme

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10. What are pyrimidines made from
Myeloperoxidase
DTMP
Orotate precursor - with PRPP added later
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra

11. What substances are uncouling agents
LCAT (lecithin cholesterol acyltransferase)
2 -4 DNP - aspirin
Adds an inorganic phosphate onto substrate without using ATP
Oxidative and nonoxidative - no ATP produced or used

12. What does apoB48 do
RER
Vit K antagonist
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
Mediates chylomicron secretion

13. What do DNA topoisomerases do
Glutamine PRPP amidotransferase
Creat a nick in the helix to relieave supercoils created during replication
Removal of N or C termal propeptides from zymogens to generate mature proteins
4 under the floor

14. What is DNA cloning and How do you do it?
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Not all individuals with a mutant genotype show the mutant phenotype
Antioxidant - protects RBCs and membrances from free radical damage
B100 and E

15. What are the functinos of vitamin A
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
II - VII - IX - X (1972) protein C and S
Transmitted through both parents - affected mother may have affected children - affected father will have affected children

16. What do B- complex vitamin deficiencies often result in
ATP and alanine
Kwashiorkor - small child with swollen belly
Dermatitis - glossitis - and diarrhea
Pyruvate to oxaloacetate (3C to 4C)

17. Type II cartilage
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
CarTWOlage

18. What does the TCA cycle produce per 1 acetyl CoA
GAA
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
RNA
Griseofulvin

19. What are the only purely ketogenic amino acids
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Lysine and arginine
Lysine and leucine
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase

20. What two enzymes are involved in EtOH metabolism
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
EtOH dehydrogenase and acetaldehyde dehydrogenase

21. How many ATP are produced by anearobic glycolysis per molecule of glucose
Neuralgia
NADH - NADPH - FADH2
Two
Inhibits the Na/K pump by binding the K side

22. What are possilbe presentation for galactokinase def
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Promotor - TATA box - and CAAT box - AT rich
Failure to track objects or develop a social smile
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine

23. Where does gluconeogenesis primarily happen and What are other sites where the enzymes are located
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Methionine encode by only 1 codon (AUG)
Liver - also in kidney and gut epithelium
Initiate chains

24. Why can't muscle produce in gluconeogenesis
Lacks glucose 6 phophatase
Familial hypercholesterolemia - hyperlipidemia type IIA
AMP - fructose 2 -6 BP
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais

25. What kind of branches do glycogen branches have
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Basement membrane or basal lamina
Alpha 1 -6 and alpha 1 -4
Inc Cl - in sweat

26. What lab value can distinguish orotic aciduria from ornithine transcarbamoylase def?
Unwinds DNA template at replcation fork
Core proteins
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
OTC has hyperammonemia - orotic aciduira does not

27. What are the symptoms of vit A def
Wobble
Night blindness - dry skin
Poly A polymerase - signal is AAUAA
Dopamine beta hydroxylase

28. What are the products for glycolysis
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
After day 1
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis

29. What are the names and sources of the two types of vit D found in nature
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
ADPKD
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin

30. What drugs can cause folate def
Wobble
Hypoxanthine to xanthing and xanthine to uric acid
Phenytoin - MTX - and sulfonamides
Lacks glucose 6 phophatase

31. cytoskeletal elements associated with cilia - flagella - mitotic spindle - neurones and centrioles
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Silencers
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Microtubules

32. What happens at the smooth ER
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Site of steroid synthesis and detoxification of drugs and poisons
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Actin and myosin

33. What enzyme esterifies 2/3 of plasma cholesterol
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
LCAT (lecithin cholesterol acyltransferase)
Anabolic processes as a supply of reducing equivalents
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects

34. What causes biotin def
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Antibiotic use or excessive ingestion of raw eggs
Protective against malaria
NADH - NADPH - FADH2

35. What is the amino acid precuros for niacin and serotonin/melatonin
Tryptophan
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Alpha1 antitrypsin

36. What is the defect in fructose intolerance and What does it cause
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
B100
Isocitrate dehydrogenase
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting

37. What does Alports syndrome cause and why
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Unwinds DNA template at replcation fork
Adds an inorganic phosphate onto substrate without using ATP

38. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
Alpha - ketoglutarate dehydrogenase complex
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
25OHD3
High output cardiac failure - dilated cardiomyopathy - edema

39. 1 g of protein or cabrohydrate = ?kcal
Assistance of upper extremities to stand up
Four
They yield only acetyl - CoA equivalents
AMP - fructose 2 -6 BP

40. Type IV collagen is an important structural componenet of the BM for which 3 organs
Kidney - ears - eyes
Alpha and beta tubulin - dimers have two GTP bound
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL

41. What is the most abundant protein in the body
Carnitine shuttle - acyl - coa from cyto to mito
Collagen
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
Deamination

42. Of the four possible fates for pyruvate - which one carries amino groups to liver from muscle
Alanine
Core proteins
Skin
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

43. What does glycosylation of pro alpha chian yield and What is the structure
3' end (with CCA)
Procollagen - triple helix of 3 alpha collagen chains
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
40 - 60 - 80

44. What is the TX for hyper ammonemia
No - its non homologous
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Initiate chains
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

45. bilateral acoustic schwannomas - juvenile cataracts
B100 and E
Phenytoin - MTX - and sulfonamides
NF2 on chromosome 22
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

46. The pyruvate dehydrogenase complex serves In what reaction: products
Assistance of upper extremities to stand up
Acetly- CoA - CO2 - NADH
NADPH
Two

47. What enzyme becomes essential in PKU
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Tyrosine
Acetyl - CoA
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15

48. What happens in termination of proteins synthesis
Stop codon is recognized by release factor - and completed protein is released from ribosome
Oxidized hemoglobin precipiated within RBCs
Phenylalanine
B6

49. What are Heinz bodies
Inc permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Chylomicrons
Oxidized hemoglobin precipiated within RBCs

50. Formed and degradation of VLDL - delivers TGs and cholesterol to liver where they are degraded to LDL
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Alkaptonuria - may have debiliating arthralgias
IDL
Inhibits 50S peptidyltransferase