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Biochemistry

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1. What is the source of energy in the fasting state between meals
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
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Purines= A - G pyrimidine = C - T (U)
Stored ATP - creatine phosphate - anaerobic glycolysis

2. Mediates reverse cholesterol transport from periphery to liver - acts as respository for apoC an apoE - secreted from both liver and small intestine
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
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
HDL

3. What does NADPH oxidase deficiency result in and why
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
ATP
Cri du chat
Change resulting in early stop codon

4. Where is vit B12 found
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
X linked frame shif mutation

5. What is the exception to genetic redundancy
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Methionine encode by only 1 codon (AUG)
Foliage - small reserve in liver - eat green leaves

6. What stretch of DNA that alters gene expression by binding of transcription factors
Particular sequence of DNA where replicatino begins - may be single of multiple
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
HMG- CoA synthase
Enhancers

7. What happens to glycogen in the liver
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Acetly- CoA - CO2 - NADH
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Inhibits RNA polymerase II - found in death cap mushrooms

8. What happens with wet beriberi
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Arg - lys - his - arg is most basic - has has no charge at body pH
High output cardiac failure - dilated cardiomyopathy - edema
Lariat shape in order and remove intron precisely and join 2 exons

9. Wgat substances directly inhibit mitochondrial ATPase - causing an inc in proton gradient - no ATP because pump is stopped
SnRNPs and other proteins
Phenylalanine
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Oligomycin

10. How is ammonium transported from muscle to the liver for urea cycle
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
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase

11. What does desmin stain for
Only processed RNA
Collagen
Muscle
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

12. What is the function of folic acid
Inc insulin - dec cAMP - dec PKA
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Flank pain - hematuria - HTN - progressive renal failure
Polyneuritis - symmetrical muscle wasting

13. several distinct syndromes characterized by familial tumors of endocrine glands including pancreas - parathyroid - pituitary - thryoid and adrenal medulla - disorders and gene association
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
MEN - 2A and 2B with ret gene
Wernicke - korsakoff - dry and wet beriberi
Eu - methionine - pro - formyl - methionine

14. What occurs to oxaloacetate in starvation and DKA
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
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
Core proteins
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies

15. cytoskeletal elements associated with vimenentin - desmin - cytokeratin - glial fibrillary acid protiens (GFAP) - neurofilaments
Stored ATP - creatine phosphate - anaerobic glycolysis
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death
Intermediate filaments
LDL

16. What is the TX for PKU
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
RNA
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
UGA - UAA and UAG

17. How are the many staggered tropocollagen molecules reinforced
Glycine - aspartate - glutamine
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Ca/calmodulin in muscle to coordinate with muscle activity
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

18. What can vit B3 be used to treat
NAD+
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Hyperlipidemia
Post to neg

19. Which anticancer drugs work on microtubules
Vincritsine/vinblastine
Degradation of TG stored in adipocytes
Nine
Cri du chat

20. 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
Chylomicrons
Von Gierke's - Pompe - Cori - McArdle
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21

21. What 3 amino acids are necessary for purine synthesis
Supply sufficient glucose to brain and RBCs and to preserve protein
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Glycine - aspartate - glutamine
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

22. What does the ELISA test for
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase

23. In what cell is collagen synthesis initiated
Alanine
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Orotic acid to UMP
Fibroblast

24. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
Oligomycin
FAP
Avidin
Conversion of NE to epi

25. What enzyme degrades a small amount of glycogen in lysosomes
Krabbes - galactocerebrosidase - galactocerebroside - AR
DTMP
Alpha 1 -4 glucosidase
Collagen

26. Why enzyme breaks down elastin and what enzyme inhibits it
Cytosol - F 1 -6 BP to fructose 6 Phosphate
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Elastase - inhibited by alpha1 antitrypsin
Arg - lys - his - arg is most basic - has has no charge at body pH

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

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28. What makes up a nucleoside
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
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Base + ribose
CTG

29. What does a northern blot use as its sample
RNA
The triphosphate bond
Malabsorption and steatorrhea (ADEK)
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR

30. What collagen type is most frequently affected in ehlers danlos and What are common complications
III - joint dislocation - anuerysms - organ rupture
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Alpha and beta tubulin - dimers have two GTP bound

31. What are the results of CF on male fertility
Males are infertile due to bilateral absence of vas deferens
CFTR gene - 7 - Phe 508
2 -4 DNP - aspirin
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)

32. Patients with chronic granulomatous disease are at increased risk of infection From which kind of organisms
Mediates extra remnant take up
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Fed
2pq

33. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
30 - glycerol -3- phosphate shuttle
Type II
Leu - lys
Supply sufficient glucose to brain and RBCs and to preserve protein

34. What is the TX for pyruvate dehydrogenase deficiency
Changed AA (convservative - new AA is similar in chemical structure)
Phenylalanine
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine

35. What is the activated carrier for Acyl
Pyruvate - NAD+ - CoA
Glycogenolysis to form glucose
Coenzyme A - lipoamide
Failure to track objects or develop a social smile

36. For eukaryotes - Where does replication begin?
Von gierkes - glucose 6 phosphatase
If pt inherits or develops a mutation in a tumor suppresor gene - the complementary allele must be deleted/mutated before cancer develops - not true of oncogenes - retinoblastoma
Consesus sequenec of base pairs
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

37. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
RER
Eu - methionine - pro - formyl - methionine
PCR - denaturation - annealing - elongation

38. What does hartnups disease cause
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
OTC has hyperammonemia - orotic aciduira does not
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
NF2 on chromosome 22

39. What converts dopamine to NE
Proline and glycine (non glycosylated forms)
1 kind with multiple subunits
Dopamine beta hydroxylase
Type II

40. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
PFK - rate limiting enzyme
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Disease

41. What does an umabiguous genetic code refer to...
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Each codon specifies only 1 amino acid
GAA
Adenosine to inosine

42. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
X linked frame shif mutation
TRNA
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)

43. What is a frame shift
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Malapsorption syndromes like sprue or CF or mineral oil intake
Inc melt - dec fluidity

44. What does acetyl - CoA become before becoming palmitate
Unwinds DNA template at replcation fork
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Debranching enzyme

45. Which RNA poly opens DNA at promotor site
Cofactor for LPL
RNA poly II
Four
Poly A polymerase - signal is AAUAA

46. What is linkage disequilibrium
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1

47. What is RNAi used for
RNA
DsRNA promotes degradation of target mRNA knocking down gene expression
Essential fructosuria - fructokinase AR
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue

48. What is the origin of replication
Particular sequence of DNA where replicatino begins - may be single of multiple
Ile - phe - thr - trp
CGG
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive

49. What 3 steps in RNA processing occur after transcription

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50. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
ATP and methionine
CFTR gene - 7 - Phe 508
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
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

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Biochemistry

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