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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. Where is glucose 6 phosphatase found and What does it do
Elastase - inhibited by alpha1 antitrypsin
In ER - glucose 6- P to glucose
Mucus secreting globlet cells and antibody secreting plasma cells
Huntingtons

2. What is regeneration of methionine depedent on...
In ER - glucose 6- P to glucose
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
B12 and folate
APKD1 on chromosome 16

3. What neuroanatomical strutures are injured in wernicke - korsakoff
Proline and glycine (non glycosylated forms)
Mutated dystrophin gene - less severe - adolescence
Glycogen and FFA oxidation; glucose conserved for final sprinting
Medial dorsal nucleus of thalamus - mamillary bodies

4. Where is fructose 1 -6 bisphosphatase found and What does it do
TRNA
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Heterochromatin = HighlyCondensed
Cytosol - F 1 -6 BP to fructose 6 Phosphate

5. What happens in hyperammonemia
Flagella - cilia - mitotic spindles
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Oxidative and nonoxidative - no ATP produced or used
Fabrys - alpha galactosidase A - ceramide trihexoside - XR

6. progressive neurodegeneration - hepatosplenomegaly - cherry red spot on macula - foam cells
Neimann - pick - sphingomyelinase - sphingomyelin - AR
TTP
Pyruvate to oxaloacetate (3C to 4C)
Kwashiorkor - small child with swollen belly

7. What happens in vit D def
More than 1 codon may code for the same amino acid
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
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
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)

8. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Cre - lox system
Marasmus - muscle wasting
Ile - phe - thr - trp
Glucose -6 phosphate

9. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
CGG
Orotate precursor - with PRPP added later
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Oxalacetate

10. What are the fat soluble vitamins and What does their absorption depend on...
Degradation of TG remaining in IDL
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
25OHD3
Oxidative and nonoxidative - no ATP produced or used

11. What is incomplete penetrence and give an example
Not all individuals with a mutant genotype show the mutant phenotype
Y shaped region along the DNA template where leading nad lagging strands are synthesized
75 to 90 - cloverleaf
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it

12. What other inflammatory process can induce a hemolytic anemia in NADPH defieicnt patients
75 to 90 - cloverleaf
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Infection - free radicals generated by inflammatory response
HMP shunt

13. ADPKD is associated with What additional conditions
Modifies N- oligosaccharides
Acetly- CoA - CO2 - NADH
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Polycystic liver disease - berry aneurysm - mitral valve prolapse

14. What is the prevalence of an X- linked recessive disease in males and in females
PCR - denaturation - annealing - elongation
Q -
Huntingtons
Neg to pos

15. How do fluoroquinolones work
Poly A polymerase - signal is AAUAA
Inhibit DNA gyrase specific for prokaryotic topoisomerase
ATP and methionine
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

16. What 3 steps in RNA processing occur after transcription

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17. How is ATP used by the cell
Neither of 2 alleles is dominant - blood groups
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Neg to pos
ATP hyrdolysis couple to energetically unfavorable rxns

18. Gene imprinting implies that How many alleles are active at a single locus
One
Microarrays
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Exercise: inc NAD/NADH - inc ADP - inc Ca

19. What lab technique is use to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Nissl body - enzyme and NTs
Oxidizes substrate
Microarrays

20. What step of uric acid synthesis does xanthine oxidase catalyze
Unmethylated - newly synthesized - HNPCC
Hypoxanthine to xanthing and xanthine to uric acid
Mutated dystrophin gene - less severe - adolescence
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

21. antbiotic controlled promoter to induciblly manipulate genes at specific developmental points
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Wernicke - korsakoff - dry and wet beriberi
Lysine and leucine
Cre - lox system

22. What chromosome is the NF gene on...
17 - 17 letters in von Recklinghausen
DNA
Bind 30s subunit preventing attachment of aminoacyl - tRNA
75 to 90 - cloverleaf

23. What is the results of vit B1 def
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Inhibits 50S peptidyltransferase
VMA
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first

24. Which are the basic amino acids
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Arg - lys - his - arg is most basic - has has no charge at body pH
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

25. delivers hepatic TGs to peripheral tissue - secreted by liver
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
9+2 arrangement of microtubules
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
VLDL

26. What does cytokeratin stain for
Epithelial cells
Glycogenolysis to form glucose
Alkaptonuria - may have debiliating arthralgias
APKD1 on chromosome 16

27. What happens to oxaloacetate in alcholism
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
B100 and E

28. What is the purpose of the HMP shunt
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
ATP and alanine
Oral uridine administration
GTP

29. characterize x linked recessive
Foliage - small reserve in liver - eat green leaves
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
Alpha 1 -4 glucosidase
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

30. What are the two possible causes of albinism
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Attachment of ubiquitin to defective proteins tag them for breakdown
Exercise: inc NAD/NADH - inc ADP - inc Ca
Promotor - TATA box - and CAAT box - AT rich

31. What are the fetal screening measures for Down
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Wernicke - korsakoff - dry and wet beriberi
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US

32. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
FAP
Nature and severity of phenotype vary from 1 individual to another - NF type 1
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)

33. What tissues have both enzymes of sorbitol metabolism
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Dec methionine - inc cystiene - inc B12/folate
Procollagen - triple helix of 3 alpha collagen chains
Liver - ovaries - seminal vesicles

34. What is the activated carrier for phosphoryl
ATP
Seals.
Elastase - inhibited by alpha1 antitrypsin
HMP shunt

35. What kind of branches do glycogen branches have
Flagella - cilia - mitotic spindles
Alpha 1 -6 and alpha 1 -4
Microarrays
Facial flushing

36. How many ATP are created by aerobic metabolism of glucose in the heart and liver via what shuttle
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
32 - malate aspartate shuttle
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Connective tissue

37. What is anticipation and give an example
Particular sequence of DNA where replicatino begins - may be single of multiple
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Malabsorption and steatorrhea (ADEK)
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons

38. What is the fxn of vit E
Antioxidant - protects RBCs and membrances from free radical damage
Fibroblast
RRNA
Transmitted only through mother - all offspring of affected females may show signs of disease

39. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Antibiotic use or excessive ingestion of raw eggs
Carbomoyl phosphate synthetase I
Inc glucagon - inc cAMP - inc PKA

40. What ribosomes do prokaryotes have
30 - 50 - 70
RER
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Core proteins

41. What is the amino acid precursor for histamine
Binds 50S - blocking translocation
Elastase - inhibited by alpha1 antitrypsin
Histidine
APC on chromosome 5

42. What two proteins make up microtubules and how are they arranged
ADPKD
Each codon specifies only 1 amino acid
Oxidizes substrate
Alpha and beta tubulin - dimers have two GTP bound

43. How do tetracyclines work
Oxidative and nonoxidative - no ATP produced or used
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Intermediate filaments
Cyclin dependent kinases;constitutive and inactive

44. Where are FADH2 electrons transferred to...
Comlex II
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Binds to LDL receptor - mediates VLDL secretion
Pyruvate - NAD+ - CoA

45. What are purines made from
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Asp and Glu
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
IMP precursor

46. What is NADPH used for
P+q = 1
Anabolic processes as a supply of reducing equivalents
Diphyllobothrium latum
Deamination

47. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Proton gradient
Glucose 6 phosphate dehydrogenase (G6PD)
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra

48. Inhibition of thymidilate synthase and and DHFR lead to decrease In what substance
DTMP
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Seals.
Inc melt - dec fluidity

49. What enzyme adds Cl - to the H202 to makes bleach
2 rings
30 - glycerol -3- phosphate shuttle
Myeloperoxidase
Degredation of TG circulating in chylomicrons and VLDLs

50. How do odd chain fatty acids participate in gluconeogenesis
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Silencers