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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. Which aspect of the spliceosome do patients with lupus make antibodies against
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
SnRNPs
1 ring

2. How is Lesch Neyhan inherited
Glycolysis and aerobic respiration
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
X- linked recessive
Wrinkles and acne

3. trinucleotide repeat for huntingtons
Mediates chylomicron secretion
ATP
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
CAG

4. Where is hexokinase found - What is its Km and Vmax and what uninduces it
Schwann cells - lens - retina - kidneys
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Hypoxanthine to xanthing and xanthine to uric acid
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive

5. What is the exception to genetic redundancy
Deamination
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
Methionine encode by only 1 codon (AUG)
NADPH

6. What does inc phenylalanine lead to...
B-100 - CII and E
More than 1 codon may code for the same amino acid
Phenylketones in urine
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels

7. How do microtubules grow and collapse
Glycine
Cytosol
Defect in fibrillin
Grows slowly - collapses quickly

8. What ribosomes do prokaryotes have
Targets the proteins for lysosome
30 - 50 - 70
Transfers methyl units
II - VII - IX - X (1972) protein C and S

9. characterize x linked dominant
Phosphofructokinase 1
Accelearted muscle breakdown
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue

10. What does the mutation in the gene cause in protein synthesis
Abnormal protein folding - degradation before reaching cell surface
Glycogen synthase
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
CFTR gene - 7 - Phe 508

11. What are the symptoms of vit A def
APKD1 on chromosome 16
Ribos first then deoxyribos with ribonucleotide reductase
Glucose 6 phosphatase
Night blindness - dry skin

12. What can excess vit B3 cause
Facial flushing
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Ile - phe - thr - trp
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine

13. How does patients present with ADPKD
Site of steroid synthesis and detoxification of drugs and poisons
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Flank pain - hematuria - HTN - progressive renal failure
GTP

14. Describe the structure of cilia
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Stop codon is recognized by release factor - and completed protein is released from ribosome
Debranching enzyme
9+2 arrangement of microtubules

15. What is the complication of cystinuria
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Malapsorption syndromes like sprue or CF or mineral oil intake
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA

16. Broadly - What can cause fat - soluble vitamin deficiencies
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
F16BP
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Malapsorption syndromes like sprue or CF or mineral oil intake

17. Wgat substances directly inhibit mitochondrial ATPase - causing an inc in proton gradient - no ATP because pump is stopped
Occurs when cells in the body have different genetic makeup - can be germline mosaic - which may produce a disease that is not carried by parents somatic cells - lyonization - random X inactivation in females
Alpha 1 -6 and alpha 1 -4
Acetoacetate and beta hydroxybutyrate
Oligomycin

18. If two alleles are present - but the active allele is deleted - what happens
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
ATP
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Disease

19. What induces pyruvate kinase
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Only processed RNA
F16BP
Blood - bone marrown - amniotic fluid - placental tissue

20. What do the single stranded binding proteins do
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
After day 1
Prevent strands from reannealing
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase

21. What chromosome is the NF gene on...
African Americans and Asians
Pseudomonas and s aureus
17 - 17 letters in von Recklinghausen
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

22. Which anti breast cancer drugs work on micortubules
Binds 50S - blocking translocation
Changed AA (convservative - new AA is similar in chemical structure)
Paclitaxel
II - VII - IX - X (1972) protein C and S

23. What does DNA poly III do?

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24. What defects characterize DiGeorge syndrome
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
L form
Free ribosomes
Thymic - parathyroid and cardiac

25. What is codominance and give an example
AMP - fructose 2 -6 BP
Inc vit B6
GTP
Neither of 2 alleles is dominant - blood groups

26. What does NADPH oxidase deficiency result in and why
ATP and methionine
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Specific glycosylases - AP endonuclease
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA

27. In eukaryotes - What does RNA poly II make
B100 and E
MRNA
Fructose 1 -6 bisphosphate
Accelearted muscle breakdown

28. What fxn does glucokinase serve in the liver
32 - malate aspartate shuttle
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss

29. What is the activated carrier for 1 carbon units
Glycine
THFs
MEN - 2A and 2B with ret gene
Stop codon is recognized by release factor - and completed protein is released from ribosome

30. What are the only purely ketogenic amino acids
Disorder of aromatic amino acid metabolism
Lysine and leucine
Ribos first then deoxyribos with ribonucleotide reductase
MEN - 2A and 2B with ret gene

31. What happens in the first stage of collagen synthesis - and Where does it happen
Q -
Fibrofatty replacement of muscle - cardiac myopathy
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes

32. In which structures do you find microtubules
Flagella - cilia - mitotic spindles
Connective tissue
Mediates chylomicron secretion
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

33. progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Rb and p53

34. How do you diagnose CFTR
Mediates chylomicron secretion
Inc Cl - in sweat
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
By inhibiting formation of the initiation complex and cause misreading of mRNA

35. What are bite cells and when do you see them
Result from phagocytic removal of heinz bodies my macs - G6PD def
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Cre - lox system
Occurs when cells in the body have different genetic makeup - can be germline mosaic - which may produce a disease that is not carried by parents somatic cells - lyonization - random X inactivation in females

36. What are the symptoms of vit A excess
Paclitaxel
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)

37. What rxn does propionyl - CoA carboxylase catalyze
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
Specific glycosylases - AP endonuclease
Myeloperoxidase
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)

38. What does primase do
F16BP
Makes RNA primer on which DNA poly III can initiate replication
In ER - glucose 6- P to glucose
Bind 30s subunit preventing attachment of aminoacyl - tRNA

39. Describe the pathophys of the aorta in a pt with marfans - and the eyes
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Neural tube
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia

40. What does GFAP stain for
DsRNA promotes degradation of target mRNA knocking down gene expression
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Neuralgia
Wobble

41. What does fomepizole do
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
VMA
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
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning

42. What is the prevalence of an X- linked recessive disease in males and in females
Proline and glycine (non glycosylated forms)
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Q -
Prokaryotic only - degrades RNA primer and fills in the gap with DNA

43. What does vit C def cause
HMP shunt
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Night blindness - dry skin
Post to neg

44. What converts NE to epi
Glucose -6 phosphate
Glucose - 2Pi - 2ADP - 2NAD+
Zero
Phenylethamolamine N methyl transferase

45. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
Terminal regions - tropocollagen
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Alpha - ketoglutarate dehydrogenase complex

46. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
B48 - AIV - CII - E
X linked frame shif mutation
RER
Males are infertile due to bilateral absence of vas deferens

47. Where are cytosolic and organellar proteins made
Free ribosomes
Defect in fibrillin
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Semiconservative - continuous and discontinuous strands (okazaki fragments)

48. What is uniparental disomy
Karyotyping
NF2 on chromosome 22
Tuberous sclerosis
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

49. What are the complications/signs of familial hypercholesterolemia
Epithelial cells
Inc dicarboxylic acids - dec in glucose and ketones
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

50. What is the wernicke - korsakoff clinical picture
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Ribos first then deoxyribos with ribonucleotide reductase
NADPH
Lacks glucose 6 phophatase