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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 Adenosine deaminase deficiency cause a build up of - and What does that lead to?
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Carnitine acyltransferase I
B48 - AIV - CII - E
HMP shunt

2. What does biotin def cause
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side
Dermatitis - alopecia - enteritis
Flagella - cilia - mitotic spindles

3. What shuttle is used in fatty acid degredation and What does it move and From where to where
Medial dorsal nucleus of thalamus - mamillary bodies
Carnitine shuttle - acyl - coa from cyto to mito
Oligomycin
Biotin

4. Milder form of type I with nl blood lactate levels - dz and enzyme

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5. 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
Carnitine shuttle - acyl - coa from cyto to mito
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
Fibrofatty replacement of muscle - cardiac myopathy
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects

6. What is the breakdown product of dopamine
Thymic - parathyroid and cardiac
Conversion of NE to epi
LCAT (lecithin cholesterol acyltransferase)
HVA

7. Gene imprinting implies that How many alleles are active at a single locus
OTC has hyperammonemia - orotic aciduira does not
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Mucus secreting globlet cells and antibody secreting plasma cells
One

8. Which amino acids are elastin rich in
Proline and glycine (non glycosylated forms)
Isocitrate dehydrogenase
Neurofibromatosis type 1 (von Recklinghausens disease)
Cofactor for LPL

9. If two alleles are present - but the active allele is deleted - what happens
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Disease
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Catabolic processes to carry reducing equivalents away as NADH

10. Delivers hepatic cholesterol to peripheral tissues - formed by LPL modification of VLDL in the peripheral tissue - taken up by target cells via RME
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
Uses ATP to add high energy phophate group onto substrate
LDL
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation

11. bilateral acoustic schwannomas - juvenile cataracts
Males are infertile due to bilateral absence of vas deferens
Arg - lys - his - arg is most basic - has has no charge at body pH
NF2 on chromosome 22
Marfans

12. How is ammonium transported from muscle to the liver for urea cycle
Medial dorsal nucleus of thalamus - mamillary bodies
Conversion of NE to epi
Microtubules
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

13. What is the most abundant type of RNA
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
RRNA
Arg and his inc in histones Which bind negatively charged DNA
Proline and lysine - vit C

14. Which enzyme involved in RNA synthesis does not require a template
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Liver - also in kidney and gut epithelium
Poly A polymerase - signal is AAUAA
Procollagen - triple helix of 3 alpha collagen chains

15. What are the clinical features of I cell diesase
F16BP
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Scrutinizes - hydrolyzes the bond
THFs

16. Where does gluconeogenesis primarily happen and What are other sites where the enzymes are located
Microarrays
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Actin and myosin
Liver - also in kidney and gut epithelium

17. What happens on the nonoxidative arm of the HMP shunt and What is the key enzyme and cofactor
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
CGG
APRT + PRPP
Neural tube

18. Eukaryotic and prokaryotic DNA synthesis is blank and involves both blank and blank strands
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Glycogen and FFA oxidation; glucose conserved for final sprinting
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

19. What is the purpose of the HMP shunt
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
ATP - citrate
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

20. How do tetracyclines work
Met - val - arg his
Specific glycosylases - AP endonuclease
Targets the proteins for lysosome
Bind 30s subunit preventing attachment of aminoacyl - tRNA

21. What is the RDE of ketogenesis
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
HMG- CoA synthase
Procollagen - triple helix of 3 alpha collagen chains
III - joint dislocation - anuerysms - organ rupture

22. How does chloramphenicol work
B100
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Inhibits 50S peptidyltransferase
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1

23. Describe robertsonian translocation
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
MRNA - tRNA
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -

24. cytoskeletal elements in micorvilli - muscle contracting fibers - cytokenesis - adherens jxns
Zero
Actin and myosin
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
O- oligosaccharaides

25. Synthesis of vit B3 requires what other vitamin
9+2 arrangement of microtubules
B6
Alcohol version of glucose - can trap glucose in cell - aldose reductase
1 -25 OH2 D3 = calcitriol

26. central and peripheral demyelination with ataxia and dementia
Alpha1 antitrypsin
B100
5' of the incoming nucleotide
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR

27. Mediates reverse cholesterol transport from periphery to liver - acts as respository for apoC an apoE - secreted from both liver and small intestine
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
Procollagen - triple helix of 3 alpha collagen chains
HDL
Infection - free radicals generated by inflammatory response

28. What does the start codon code for in eukaryotes and prokaryotes
By inhibiting formation of the initiation complex and cause misreading of mRNA
CFTR gene - 7 - Phe 508
Eu - methionine - pro - formyl - methionine
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it

29. What are the characteristics of prader willi syndrome How does it occur
Liver - ovaries - seminal vesicles
Mediates extra remnant take up
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
G6PD

30. What does degenerate/rundant genetic code refer to...
FMR1 gene - methylation - associated with chromosomal breakage
Proton gradient
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
More than 1 codon may code for the same amino acid

31. Where is acetaldehyde located
Mitochondria
Krabbes - galactocerebrosidase - galactocerebroside - AR
Skin
Inc Cl - in sweat

32. The pyruvate dehydrogenase complex serves In what reaction: products
Acetly- CoA - CO2 - NADH
Polyneuritis - symmetrical muscle wasting
ATP hyrdolysis couple to energetically unfavorable rxns
Acetoacetate and beta hydroxybutyrate

33. What are the purely ketogenic amino acids
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
LCAT (lecithin cholesterol acyltransferase)
Inc dicarboxylic acids - dec in glucose and ketones
Leu - lys

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

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35. Giving folate during early pregnancy is important to prevent what birth defects
Two
Neural tube
Von hippel lindau - 3
Tryosine hydroxylase

36. What is the amino acid precuror for creatine - urea and nitric oxide
Lactate
Arginine
30 - 50 - 70
Ile - phe - thr - trp

37. What reaction does adenosine deaminase normally catalyze
Dopamine beta hydroxylase
VLDL
Adenosine to inosine
Kwashiorkor - small child with swollen belly

38. What happens in a B12 def
Fibrofatty replacement of muscle - cardiac myopathy
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Oral uridine administration
B48 - AIV - CII - E

39. What is a silent mutation
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
CarTWOlage
Acetyl - CoA
Same AA - often base change in 3rd position of codon (tRNA wobble)

40. What causes Hartnup's disease
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Isocitrate dehydrogenase
1 -25 OH2 D3 = calcitriol
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells

41. What is kartageners syndrome
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Q -
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Binds to LDL receptor - mediates VLDL secretion

42. NADPH are used In what 4 things
Histidine
Alanine
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
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

43. What is the energy source after day 3 of starvation
Foliage - small reserve in liver - eat green leaves
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
Neither of 2 alleles is dominant - blood groups
Cartilage - hyaline - vitreous body - nucleus pulposus

44. What does the golgi add to serine and threonine residues
O- oligosaccharaides
Blood - bone marrown - amniotic fluid - placental tissue
In ER - glucose 6- P to glucose
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

45. What happens in vit D def
Prevent strands from reannealing
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Essential fructosuria - fructokinase AR
Rb and p53

46. What do the single stranded binding proteins do
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
Particular sequence of DNA where replicatino begins - may be single of multiple
Prevent strands from reannealing

47. What ribosomes do prokaryotes have
Lactate
Read from a fixed starting point as a continuous sequence of bases
30 - 50 - 70
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis

48. What is the RDE of cholesterol synthesis
Neg to pos
HMG- CoA reductase
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
Dermatitis - glossitis - and diarrhea

49. What kind of branches do glycogen branches have
Eu - methionine - pro - formyl - methionine
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Purines= A - G pyrimidine = C - T (U)
Alpha 1 -6 and alpha 1 -4

50. Give an example of a mitochondrial inherited disease
After citruline
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Intermediate filaments
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies