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Biochemistry

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1. What are the findings in PKU
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
AMP - fructose 2 -6 BP
Disorder of aromatic amino acid metabolism

2. Patients with chronic granulomatous disease are at increased risk of infection From which kind of organisms
Coenzyme A - lipoamide
Orotate precursor - with PRPP added later
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
The triphosphate bond

3. Which tumor suppresors inhibit G1 to S progression - where mutations result in unrestrained growth
Oxidative and nonoxidative - no ATP produced or used
TTP
Makes RNA primer on which DNA poly III can initiate replication
Rb and p53

4. Type II collagen
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
NAD+
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Cartilage - hyaline - vitreous body - nucleus pulposus

5. What 3 steps in RNA processing occur after transcription

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6. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Achondroplasia
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Dec DNA - dec lymphos leads to SCID

7. What are the characteristics of angelmans syndrome and How does it occur
No - its non homologous
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Flank pain - hematuria - HTN - progressive renal failure

8. What are the products for glycolysis
Inhibits 50S peptidyltransferase
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Microtubules

9. What are the two transgenic strategies in mice
Degredation of dietary TG in small intestine
GTP
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
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

10. What is the hardy weinberg allele prevalence
Phenytoin - MTX - and sulfonamides
Antibiotic use or excessive ingestion of raw eggs
P+q = 1
SnRNPs and other proteins

11. What is the initial transcript called and What is the capped and tailed transcript called
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Colchicine
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Schwann cells - lens - retina - kidneys

12. What is Retin A used topically for
Antioxidant - protects RBCs and membrances from free radical damage
Wrinkles and acne
Intermediate filaments
VLDL

13. What part of the pre mRNA contains the actual genetic information coding for protein
Exons
Dermatitis - glossitis - and diarrhea
Alpha1 antitrypsin
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

14. What liberates glucose from glucose 6 P
NADPH
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
BOne
Glucose 6 phosphatase

15. What does SAM do
Site of steroid synthesis and detoxification of drugs and poisons
Transfers methyl units
5' of the incoming nucleotide
HMG- CoA synthase

16. What are uncoupling agents
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Neither of 2 alleles is dominant - blood groups
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
Biotin

17. What does biotin def cause
ADPKD
Dermatitis - alopecia - enteritis
Williams syndrome
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first

18. characterize autosomal recessive inheritance
Inc dicarboxylic acids - dec in glucose and ketones
II - VII - IX - X (1972) protein C and S
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the 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

19. In eukaryotes - What does RNA poly I make
PMNs
Alpha and beta tubulin - dimers have two GTP bound
O- oligosaccharaides
RRNA

20. What is the rate limiting enzyme in cholesterol synthesis
FISH
HMG- CoA (HMG- CoA to mevalonate
RRNA
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea

21. Leysh - Nyhan syndrome is a defect in which enzyme and What are the biochemical results
Carnitine acyltransferase I
HGPRT - defective purine salvage - excess uric acid production
Inc melt - dec fluidity
Binds to LDL receptor - mediates VLDL secretion

22. What does a phosphatase do
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Read from a fixed starting point as a continuous sequence of bases
Removes phosphate group from substrate

23. What substance inside the cell reduces glutatione
Alcohol version of glucose - can trap glucose in cell - aldose reductase
NADPH
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)

24. What enzyme adds Cl - to the H202 to makes bleach
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Result from phagocytic removal of heinz bodies my macs - G6PD def
Myeloperoxidase

25. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
1 -25 OH2 D3 = calcitriol
Alpha - ketoglutarate dehydrogenase complex
African Americans and Asians
Ca/calmodulin in muscle to coordinate with muscle activity

26. What does inc phenylalanine lead to...
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Phenylketones in urine
RRNA
Secretion of abnl thick mucus that plugs lungs - pancreas - liver

27. What is the energy source for tRNA actication (charging)
Inc vit B6
Familial hypercholesterolemia - hyperlipidemia type IIA
Kwashiorkor - small child with swollen belly
ATP

28. What are the mRNA stop codons
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
UGA - UAA and UAG
40 - 60 - 80
Diphyllobothrium latum

29. What does hepatic TG lipase do
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Degradation of TG remaining in IDL
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria

30. What causes patau's syndrome and What is it
Ribose 5- P to PRPP
P+q = 1
Alanine
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year

31. What does acetyl - CoA become before becoming palmitate
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Palate - facial and cardiac defects
Promotor - TATA box - and CAAT box - AT rich
Dermatitis - alopecia - enteritis

32. How does chloramphenicol work
Proline and glycine (non glycosylated forms)
75 to 90 - cloverleaf
Removes phosphate group from substrate
Inhibits 50S peptidyltransferase

33. What enzyme def can cause emphysema
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
5' to 3'
Alpha1 antitrypsin

34. Which enzyme involved in RNA synthesis does not require a template
Paclitaxel
Poly A polymerase - signal is AAUAA
Huntingtons
Debranching enzyme

35. How do fluoroquinolones work
Stop codon is recognized by release factor - and completed protein is released from ribosome
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
ATP

36. What sugar is sorbitol converted to and via what enzyme - and What can happen in cells lacking this enzyme
Microarrays
Comlex II
Malapsorption syndromes like sprue or CF or mineral oil intake
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes

37. What is the RDE of the HMP shunt
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Glucose 6 phosphate dehydrogenase (G6PD)
Ile - phe - thr - trp
X- linked recessive

38. What is the composition of urea and where do each part derive from
Adds 2 carbon with the help of biotin
Rb and p53
Methionine encode by only 1 codon (AUG)
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate

39. How does warfarin work
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Inc dicarboxylic acids - dec in glucose and ketones
Essential fructosuria - fructokinase AR
Vit K antagonist

40. What is the pathway in the fed state leading to dec FBPase -2 and inc PFK-2
Inc insulin - dec cAMP - dec PKA
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
O- oligosaccharaides
PMNs

41. What enzyme becomes essential in PKU
Tyrosine
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Cre - lox system

42. What is the activated carrier for 1 carbon units
Specific glycosylases - AP endonuclease
THFs
IDL
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR

43. What does the golgi assemble proteoglycans from
Familial hypercholesterolemia - hyperlipidemia type IIA
Core proteins
Oxidative is irreversible
Nature and severity of phenotype vary from 1 individual to another - NF type 1

44. In what cells do the respiratory burst occur
Malonyl coa
PMNs
Cartilage - hyaline - vitreous body - nucleus pulposus
Acetyl - CoA carboxylase (ACC)

45. Where is pyruvate carboxylase found - What does it do - What does it require amd What activates it
In ER - glucose 6- P to glucose
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Vit K antagonist

46. What apolipoprotein is on LDL
B100
Phenylalanine
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
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

47. What does apoE do
Alpha1 antitrypsin
Mediates extra remnant take up
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS

48. What is the energy source after day 3 of starvation
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
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
EtOH dehydrogenase and acetaldehyde dehydrogenase
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

49. What is incomplete penetrence and give an example
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Not all individuals with a mutant genotype show the mutant phenotype
Oxidative and nonoxidative - no ATP produced or used
NADPH

50. What is heteroplasmy
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
2 -4 DNP - aspirin
APRT + PRPP
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

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Biochemistry

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