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Biochemistry

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1. Which RNA poly opens DNA at promotor site
RNA poly II
Mebendazole/thiabendazole
Biotin
Inc insulin - dec cAMP - dec PKA

2. Type II collagen
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Elastase - inhibited by alpha1 antitrypsin
Cartilage - hyaline - vitreous body - nucleus pulposus
Adenosine to inosine

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

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4. What 3 syndromes are associated with vit B1 def
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Wernicke - korsakoff - dry and wet beriberi
FMR1 gene - methylation - associated with chromosomal breakage

5. What substance inside the cells replenishes NADPH
CFTR gene - 7 - Phe 508
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
G6PD
Colchicine

6. What happens in vit B2 def
Glutamine PRPP amidotransferase
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Pyruvate - NAD+ - CoA
Alpha and beta tubulin - dimers have two GTP bound

7. What does the mutation in the gene cause in protein synthesis
Microarrays
Pyruvate to oxaloacetate (3C to 4C)
Protective against malaria
Abnormal protein folding - degradation before reaching cell surface

8. ADPKD is associated with What additional conditions
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Carnitine shuttle - acyl - coa from cyto to mito
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)

9. What kind of branches do glycogen branches have
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Vincritsine/vinblastine
Alpha 1 -6 and alpha 1 -4

10. What part of the pre mRNA contains the actual genetic information coding for protein
Superoxide dismutase
Exons
Flank pain - hematuria - HTN - progressive renal failure
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms

11. What occurs to oxaloacetate in starvation and DKA
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Intermediate filaments
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Glucose -6 phosphate

12. What causes Edwards syndrome and What is it
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Poly A polymerase - signal is AAUAA
HDL

13. Type IV collagen is an important structural componenet of the BM for which 3 organs
Kidney - ears - eyes
ATP
Only processed RNA
Vit K antagonist

14. What does a pyruvate dehydrogenase deficiency lead to and What are the findings
Fibroblast
Acetly- CoA - CO2 - NADH
CGG
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects

15. What is the Name and function of vit B1
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
B100 and E
Degredation of TG circulating in chylomicrons and VLDLs
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase

16. What shuttle is involved in fatty acid synthesis and What does it move From where to where
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
More than 1 codon may code for the same amino acid
Hypoglycemia
Citrate - acetyl coa from mito to cyto

17. Where do you find elastin and What does it do
Ribos first then deoxyribos with ribonucleotide reductase
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin

18. What is the breakdown product of epi
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Metanephrine
Promotor - TATA box - and CAAT box - AT rich

19. What are the glucogenic essential amino acids
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Met - val - arg his
RRNA
Read from a fixed starting point as a continuous sequence of bases

20. What is the longest time of RNA and shortest
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Alpha1 antitrypsin
MRNA - tRNA
Debranching enzyme

21. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
Kidney - ears - eyes
Cleft palate - cardiac abnl - pregs test
HGPRT - defective purine salvage - excess uric acid production
Mucus secreting globlet cells and antibody secreting plasma cells

22. What feedback inhibits hexokinase
Autosomal recessive diseases
Removes phosphate group from substrate
Glucose -6 phosphate
B6

23. what happens in acyl coa dehyrdogenase def
Not all individuals with a mutant genotype show the mutant phenotype
Inc dicarboxylic acids - dec in glucose and ketones
Inhibits 50S peptidyltransferase
Inc insulin - dec cAMP - dec PKA

24. antbiotic controlled promoter to induciblly manipulate genes at specific developmental points
Cre - lox system
O- oligosaccharaides
GTP
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

25. What does Citrate Is Krebs starting substrate for making oxaloacetate
Uses ATP to add high energy phophate group onto substrate
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
30 - 50 - 70

26. In what cell is collagen synthesis initiated
Schwann cells - lens - retina - kidneys
Creat a nick in the helix to relieave supercoils created during replication
Fibroblast
N to C

27. Type III 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
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond

28. characterize autosomal recessive inheritance
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
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
Keep glutathione reduced so it can detoxify free radicals and peroxides

29. What is the RDE of de novo pyrimidine synthesis
Inc insulin - dec cAMP - dec PKA
Glycogen phosphorylase
Carbomoyl phosphate synthetase II
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

30. What happens in vit D def
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Lysine and leucine
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
LCAT (lecithin cholesterol acyltransferase)

31. What inhibits the carnitine shuttle
Malonyl coa
Change resulting in early stop codon
Free ribosomes
Achondroplasia

32. What does an umabiguous genetic code refer to...
Q -
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Each codon specifies only 1 amino acid
Seals.

33. What is the RER called in neurons and What is made there
Nissl body - enzyme and NTs
CAG
Read from a fixed starting point as a continuous sequence of bases
Must be both activated and inactivated for cell cycle to progress

34. Which end of the tRNA is the amino acid bound to...

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35. What is the result of vit B5 def
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
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Chylomicrons
Activates LCAT

36. developmental delay - gargoylism - airway obstruction - corneal clouding - hepatosplenomegaly
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Avidin
Pseudomonas and s aureus

37. delivers hepatic TGs to peripheral tissue - secreted by liver
9+2 arrangement of microtubules
VLDL
Tryosine hydroxylase
Exercise: inc NAD/NADH - inc ADP - inc Ca

38. What collagen type is most frequently affected in ehlers danlos and What are common complications
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Glucose - 2Pi - 2ADP - 2NAD+
III - joint dislocation - anuerysms - organ rupture
Oxidizes substrate

39. Which amino acids are elastin rich in
Glutamate
Proline and glycine (non glycosylated forms)
Transmitted only through mother - all offspring of affected females may show signs of disease
Lactate

40. How do odd chain fatty acids participate in gluconeogenesis
Ribose 5- P to PRPP
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
ADPKD

41. What does a southern blot use as its sample
DNA
Malapsorption syndromes like sprue or CF or mineral oil intake
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
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease

42. progressive neurodegeneration - hepatosplenomegaly - cherry red spot on macula - foam cells
Creat a nick in the helix to relieave supercoils created during replication
ATP and alanine
RNA
Neimann - pick - sphingomyelinase - sphingomyelin - AR

43. Wgat substances directly inhibit mitochondrial ATPase - causing an inc in proton gradient - no ATP because pump is stopped
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
Same as sprint + OXPHOS
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Oligomycin

44. What does pancreatic lipase do
Lactate
Acetyl - CoA carboxylase (ACC)
Degredation of dietary TG in small intestine
Proline and glycine (non glycosylated forms)

45. What is the RDE of glycogenolysis
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Glycogen phosphorylase
Oxidative and nonoxidative - no ATP produced or used
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. cytoskeletal elements associated with vimenentin - desmin - cytokeratin - glial fibrillary acid protiens (GFAP) - neurofilaments
Niacin - constituent of NAD and NADP - derived from tryptophan
Medial dorsal nucleus of thalamus - mamillary bodies
Intermediate filaments
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels

47. What is the amino acid precursor for histamine
Basement membrane or basal lamina
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Histidine
Robertsonian translocation and mosaicism

48. What happens in hyperammonemia
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Alpha 1 -6 and alpha 1 -4

49. In eukaryotes - What does RNA poly II make
MRNA
Sucrose = glucose + fructose - lactose = glucose + galactose
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning

50. A small proportion of Down syndrome is due to What two genetic events
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Robertsonian translocation and mosaicism
Alpha - ketoglutarate dehydrogenase complex
3' end (with CCA)

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Biochemistry

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