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Biochemistry

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1. An inability to convert orotic acid to UMP would be caused by a deficiency either of which two enzymes

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2. What apolipoproteins are on IDL
B100 and E
Protein kinase A
Core proteins
Disease

3. What happens on the oxidative arm of the HMP shunt and What is the key enzyme
4 under the floor
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Core proteins
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele

4. What is the structure of elastin
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Tropoelastin with fibrillin scafolding
DsRNA promotes degradation of target mRNA knocking down gene expression
Inc Cl - in sweat

5. What produces NADPH
Enhancers
HMP shunt
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor

6. How is ATP used by the cell
Not all individuals with a mutant genotype show the mutant phenotype
ATP hyrdolysis couple to energetically unfavorable rxns
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
1 ring

7. What is anticipation and give an example
Dermatitis - enteritis - alopecia - adrenal insuff
Procollagen - triple helix of 3 alpha collagen chains
Cre - lox system
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons

8. What is the amino acid precursor for GABA and glutathione
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Dermatitis - alopecia - enteritis
Glutamate
DsRNA promotes degradation of target mRNA knocking down gene expression

9. What is pleiotropy and given an example
Heterochromatin = HighlyCondensed
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Basement membrane or basal lamina

10. In what cell is collagen synthesis initiated
Actin and myosin
Glycogenolysis to form glucose
Fibroblast
Anabolic processes as a supply of reducing equivalents

11. What is axonemal dynein
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
2pq
Alpha and beta tubulin - dimers have two GTP bound
Hyperlipidemia

12. What is the energy source for translocation
GTP
Bruton's agammaglobulinemia - wiskott - aldrich - fabrys disease - G6PD def - ocular albinism - Lesch - Nyhan syndrome - Duchenne and Becker Muscular Dystrophy - hunter's syndrome - hemophilia A and B
Phenylalanine hydroxylase
RER

13. What is the RDE of TCA cycle
Phosphofructokinase 1
Ribos first then deoxyribos with ribonucleotide reductase
Microarrays
Isocitrate dehydrogenase

14. What does beta oxidation do and Where does it occur
Hyperlipidemia
Inc insulin - dec cAMP - dec PKA
Breaks down acyl - coa to acetyl coa groups in mito
Neural tube

15. What is sorbitol - how and why is it made
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Oxidizes substrate
Alcohol version of glucose - can trap glucose in cell - aldose reductase
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

16. What are the findings in Down's syndrome
X linked frame shif mutation
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
N to C
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

17. How do glucagon/epi lead to glycogenolysis
Dermatitis - alopecia - enteritis
Pseudomonas and s aureus
1 -25 OH2 D3 = calcitriol
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

18. What is the function of folic acid
B100 and E
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
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Y shaped region along the DNA template where leading nad lagging strands are synthesized

19. 90% of ADPKD cases are due to a mutation In what gene
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Inc insulin - dec cAMP - dec PKA
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
APKD1 on chromosome 16

20. What does helicase do
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Seals.
Unwinds DNA template at replcation fork
Achondroplasia

21. What substance inside the cell reduces glutatione
NADPH
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
Adds 2 carbon with the help of biotin
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response

22. What is the most common urea cycle disorder and What is the mode of inheritance?
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
DTMP
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Carbomoyl phosphate synthetase II

23. Accurate base pairing is required only in the first two nucleotide positions of an mRNA codon - so conds differeing in the 3rd position may code for the same tRNA/AA due to degenerate genetic code
Wobble
Glycogenolysis to form glucose
Achondroplasia
Myeloperoxidase

24. What shuttle is involved in fatty acid synthesis and What does it move From where to where
Glucose -6 phosphate
Cytosol
Citrate - acetyl coa from mito to cyto
B12 and folate

25. Milder form of type I with nl blood lactate levels - dz and enzyme

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26. What happens in hyperammonemia
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
ATP
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates

27. what gene is implicated in fragile X syndrome - and What is the mutation
Binds to LDL receptor - mediates VLDL secretion
FMR1 gene - methylation - associated with chromosomal breakage
High output cardiac failure - dilated cardiomyopathy - edema
African Americans and Asians

28. What are the complications/signs of familial hypercholesterolemia
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Liver hepatocytes and steroid producing cells of the adrenal cortex
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
L form

29. What is the RDE of ketogenesis
Glycogen synthase
Stored ATP - creatine phosphate - anaerobic glycolysis
UGA - UAA and UAG
HMG- CoA synthase

30. Where is vit B12 found
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
OTC has hyperammonemia - orotic aciduira does not
Antibiotic use or excessive ingestion of raw eggs

31. Infection with what organism can cause B12 def
Adenosine to inosine
Disorder of aromatic amino acid metabolism
Cytosol
Diphyllobothrium latum

32. Severe fasting hypoglycemia - inc glycogen storage in liver - inc blood lactate - hepatomegaly - dz and def enzyme
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Von gierkes - glucose 6 phosphatase
4 under the floor
MRNA - tRNA

33. In which direction is protein synthesized
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
N to C
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
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase

34. What does the golgi add to serine and threonine residues
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Glucose 6 phosphatase
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
O- oligosaccharaides

35. congenital microdeletion of long arm of chromosoe 7 with findings of elfin facies - mental retardation - hypercalcemia - well developed verbal skills - extreme friendliness with strangers - cardiovascular problems
Polyneuritis - symmetrical muscle wasting
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Williams syndrome
Zero

36. How is orotic aciduria inherited
Euchromatin
AR
Inhibits the Na/K pump by binding the K side
HDL

37. What are the symptoms of vit A def
Reads usual codon but inserts wrong AA
Orotic acid to UMP
Exercise: inc NAD/NADH - inc ADP - inc Ca
Night blindness - dry skin

38. What initiates protein synthesis
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Targets the proteins for lysosome
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease

39. What does commaless - nonoverlapping genetic code refer to...
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
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
DNA
Read from a fixed starting point as a continuous sequence of bases

40. Broadly - What can cause fat - soluble vitamin deficiencies
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
Malapsorption syndromes like sprue or CF or mineral oil intake
Cofactor for LPL
Lacks glucose 6 phophatase

41. What are the products for glycolysis
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
ATP
Collagen
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

42. What is the function of biotin
Inhibits RNA polymerase II - found in death cap mushrooms
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Arg - lys - his - arg is most basic - has has no charge at body pH
VLDL

43. What substances directly inhibit electron transport chain
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Assistance of upper extremities to stand up
Rotenone - CN- - antimycin A - CO
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects

44. What neuroanatomical strutures are injured in wernicke - korsakoff
Oxalacetate
Hereditary spherocytosis
Same AA - often base change in 3rd position of codon (tRNA wobble)
Medial dorsal nucleus of thalamus - mamillary bodies

45. What does high cholesterol or long saturated fatty acid content do to the melting temperature and fluidity
Pseudomonas and s aureus
Inc melt - dec fluidity
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Tuberous sclerosis

46. Which tumor suppresors inhibit G1 to S progression - where mutations result in unrestrained growth
L form
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Rb and p53
Tuberous sclerosis

47. What happens in zinc def
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Mediates extra remnant take up
5' to 3'

48. Patients with chronic granulomatous disease are at increased risk of infection From which kind of organisms
Arg and his inc in histones Which bind negatively charged DNA
Alpha and beta tubulin - dimers have two GTP bound
Protein kinase A
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

49. Which antihelminthe drugs work on microtubules
IMP precursor
ATP
Mebendazole/thiabendazole
Glycine - aspartate - glutamine

50. What are the fetal screening measures for Down
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations

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Biochemistry

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