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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
SnRNPs
They yield only acetyl - CoA equivalents
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

2. Which direction does dynein go
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Muscle
Post to neg
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

3. In what cell is collagen synthesis initiated
Fibroblast
Adds an inorganic phosphate onto substrate without using ATP
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)

4. What happens in elongation of protein synthesis

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5. Which are the basic amino acids
Arg - lys - his - arg is most basic - has has no charge at body pH
Medial dorsal nucleus of thalamus - mamillary bodies
Nissl body - enzyme and NTs
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss

6. How does patients present with ADPKD
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
RRNA
Flank pain - hematuria - HTN - progressive renal failure
Wernicke - korsakoff - dry and wet beriberi

7. what findings are associated with marfans
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
SnRNPs and other proteins
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Liver and leafy veggies

8. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
Disorder of aromatic amino acid metabolism
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
30 - glycerol -3- phosphate shuttle

9. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
Oxidative and nonoxidative - no ATP produced or used
PCR - denaturation - annealing - elongation
RRNA
Cytosol - F 1 -6 BP to fructose 6 Phosphate

10. What apolipoprotein is on LDL
Promotor - TATA box - and CAAT box - AT rich
III - joint dislocation - anuerysms - organ rupture
B100
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais

11. What is maternal PKU
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Phenylalanine hydroxylase
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Specific glycosylases - AP endonuclease

12. What happens with dry beriberi
Modifies N- oligosaccharides
Supply sufficient glucose to brain and RBCs and to preserve protein
Polyneuritis - symmetrical muscle wasting
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex

13. What components come together to make S- adenosyl methionine
APRT + PRPP
ATP and methionine
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Liver - also in kidney and gut epithelium

14. What happens in folate def
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
1 -25 OH2 D3 = calcitriol
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Carbomoyl phosphate synthetase II

15. What 3 amino acids are necessary for purine synthesis
Oxidative is irreversible
MRNA - tRNA
High output cardiac failure - dilated cardiomyopathy - edema
Glycine - aspartate - glutamine

16. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
IDL
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
ATP
Euchromatin

17. What does the primary transcript combine with to form the spliceosome
SnRNPs and other proteins
Procollagen - triple helix of 3 alpha collagen chains
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
ADPKD

18. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
X linked frame shif mutation
Locus heterogeneity - ocular albinism is x- linked recessive
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

19. What is the Name and function of vit B2
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
Consesus sequenec of base pairs
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Reads usual codon but inserts wrong AA

20. What inhibits the carnitine shuttle
Change resulting in early stop codon
PMNs
Malonyl coa
CG- 3 > AT-2 - More CG content - melting point goes up

21. Describe the pathophys of the aorta in a pt with marfans - and the eyes
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Four
Ribos first then deoxyribos with ribonucleotide reductase
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses

22. What is the activated carrier for Acyl
Coenzyme A - lipoamide
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Males are infertile due to bilateral absence of vas deferens

23. In eukaryotes - What does RNA poly I make
More than 1 codon may code for the same amino acid
Unwinds DNA template at replcation fork
RRNA
Medial dorsal nucleus of thalamus - mamillary bodies

24. What test is used for B12 def
Avidin
Schilling test
HMG- CoA (HMG- CoA to mevalonate
Basement membrane or basal lamina

25. What does a phosphatase do
Active secretion in lungs and GI - reabsorbs in skin
Foliage - small reserve in liver - eat green leaves
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Removes phosphate group from substrate

26. What is the complication of cystinuria
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Carnitine shuttle - acyl - coa from cyto to mito

27. What residues are hydroxylated in step 2 of collagen synthesis - and What does this require
Epithelial cells
Inhibits 50S peptidyltransferase
Proline and lysine - vit C
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS

28. What happens in vit K def
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Diphyllobothrium latum
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase

29. What is the function and name of vit B6
Kwashiorkor - small child with swollen belly
Phosphorylation - glycosylation - hydroxylation
RER
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

30. What does hartnups disease cause
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Dec DNA - dec lymphos leads to SCID
HGPRT - defective purine salvage - excess uric acid production

31. In a marathon Where does energy come from
Liver - also in kidney and gut epithelium
Oral uridine administration
Mcardle's - skeletal muscle glycogen posphorylase
Glycogen and FFA oxidation; glucose conserved for final sprinting

32. How is Lesch Neyhan inherited
Von hippel lindau - 3
Dopamine beta hydroxylase
X- linked recessive
Alpha - ketoglutarate dehydrogenase complex

33. What are the findings in Down's syndrome
UDP glucose pyrophosphorylase
Dec methionine - inc cystiene - inc B12/folate
Seals.
Mental retardation - flat facies - prominent epicanthal folds - simian crease - gap between 1st 2 toes - duodenal atresia - congenital heart disease (ASD) - inc risk of All and Alzheimers

34. Where are FADH2 electrons transferred to...
Flank pain - hematuria - HTN - progressive renal failure
P+q = 1
Comlex II
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1

35. What is the result of vit B5 def
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Degradation of TG remaining in IDL
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
After day 1

36. RNA poly can't proofread - but What can it do
IMP precursor
Williams syndrome
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Initiate chains

37. What is trimming
Removal of N or C termal propeptides from zymogens to generate mature proteins
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin

38. What is the TX for pyruvate dehydrogenase deficiency
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Oxidative and nonoxidative - no ATP produced or used
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Neurofibromatosis type 1 (von Recklinghausens disease)

39. The pyruvate dehydrogenase complex serves In what reaction: products
Acetly- CoA - CO2 - NADH
Glycogen and FFA oxidation; glucose conserved for final sprinting
RRNA
Inhibits lipoic acid - vomiting - rice water stools - garlic breath

40. What enzyme adds Cl - to the H202 to makes bleach
In ER - glucose 6- P to glucose
Mitochondria
Met - val - arg his
Myeloperoxidase

41. What can vit B3 be used to treat
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Hyperlipidemia
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def

42. What are the blood glucose levels maintained by for days 1-3
Hepatic glycogenolysis - adipose tissue release of FFA - muslce and liver FFA - hepatic gluconeogenesis from peripheral tissue lactate and alanine and from adipose tissue glycerol and proprionyl - coA (odd chain FFA)
Particular sequence of DNA where replicatino begins - may be single of multiple
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Cyclin dependent kinases;constitutive and inactive

43. What causes biotin def
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
FISH
Antibiotic use or excessive ingestion of raw eggs
Superoxide dismutase

44. What is the defectin IV - hypertriglyceridemia
Oral uridine administration
Histidine
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly

45. What metabolic rxns occur in the cytoplasm
Locus heterogeneity - ocular albinism is x- linked recessive
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
In ER - glucose 6- P to glucose
Antioxidant - protects RBCs and membrances from free radical damage

46. Where is acetaldehyde located
Mitochondria
No - its non homologous
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Epithelial cells

47. Where does gluconeogenesis primarily happen and What are other sites where the enzymes are located
Liver - also in kidney and gut epithelium
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Citrate - acetyl coa from mito to cyto
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais

48. peripheral neuropathy - developmental delay - optic atrophy - glopoid cells
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
Inc insulin - dec cAMP - dec PKA
Krabbes - galactocerebrosidase - galactocerebroside - AR
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side

49. What is the active form of vit D
1 -25 OH2 D3 = calcitriol
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Four
SNP

50. depression - progressive dementia - choreiform movements - caudate atrophy and dec levels of GABA and ACH in the brain
Huntingtons
Fibroblast
Ribose 5- P to PRPP
Stop codon is recognized by release factor - and completed protein is released from ribosome