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Biochemistry

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1. What does beta oxidation do and Where does it occur
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Breaks down acyl - coa to acetyl coa groups in mito
Collagen
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA

2. What substance accumulates in galactokinase def and What is the clinical picture
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
AR
Ribos first then deoxyribos with ribonucleotide reductase
30 - glycerol -3- phosphate shuttle

3. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
B100 and E
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
FAP

4. What are the findings with homocystinuria and What amino acid is needs to be supplemented
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Acetoacetate and beta hydroxybutyrate
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses

5. What is dominant negative mutation and give an example
Rb and p53
Unmethylated - newly synthesized - HNPCC
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
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

6. What are the symptoms of vit A def
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Glycogenolysis to form glucose
Night blindness - dry skin
NADPH

7. What does CATCH 22 stand for and What causes is...
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
B48 - AIV - CII - E
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Cri du chat

8. In eukaryotes - What does RNA poly III make
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Leu - lys
TRNA
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies

9. What are the glucogenic/ketogenic amino acids
Not all individuals with a mutant genotype show the mutant phenotype
Myeloperoxidase
Ile - phe - thr - trp
Semiconservative - continuous and discontinuous strands (okazaki fragments)

10. What is the prevalence of an X- linked recessive disease in males and in females
Q -
Glycolysis and aerobic respiration
Proton gradient
Microarrays

11. Type IV collagen
Catabolic processes to carry reducing equivalents away as NADH
Chylomicrons
Basement membrane or basal lamina
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer

12. How do microtubules grow and collapse
Read from a fixed starting point as a continuous sequence of bases
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
Unmethylated - newly synthesized - HNPCC
Grows slowly - collapses quickly

13. Where is EtOH dehydrogenase located
Blood - bone marrown - amniotic fluid - placental tissue
Cytosol
G6PD
F16BP

14. Describe the pathophys of the aorta in a pt with marfans - and the eyes
Acetyl - CoA
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Consesus sequenec of base pairs
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty

15. How many rings do pyrimidines have
1 ring
Myeloperoxidase
Mucus secreting globlet cells and antibody secreting plasma cells
Exercise: inc NAD/NADH - inc ADP - inc Ca

16. Of the four possible fates for pyruvate - which one carries amino groups to liver from muscle
Makes RNA primer on which DNA poly III can initiate replication
Alanine
Hypoxanthine to xanthing and xanthine to uric acid
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

17. What does apoB100 do
Alcohol version of glucose - can trap glucose in cell - aldose reductase
ATP
Binds to LDL receptor - mediates VLDL secretion
Arg - lys - his - arg is most basic - has has no charge at body pH

18. What is the Name and fxn of vit B12
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Same as sprint + OXPHOS
Transfers methyl units
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

19. How does warfarin work
Nonsense > missense > silent
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
No
Vit K antagonist

20. What do albinism - ARPKD - CF - glycogen storage diseases - hemochromatosis - mucopolysaccharidoses (except Hunters) PKU - sickle cell - sphingolipodoses (except Fabrys) thalassemias have in common
Griseofulvin
Acetly- CoA - CO2 - NADH
Autosomal recessive diseases
Fed

21. What is the trinucleotide repeat in fragile X
CGG
Males are infertile due to bilateral absence of vas deferens
Semiconservative - continuous and discontinuous strands (okazaki fragments)
NADPH

22. What does Citrate Is Krebs starting substrate for making oxaloacetate
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -

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

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24. What are cyclin - CDK complexes
Must be both activated and inactivated for cell cycle to progress
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Alpha 1 -4 glucosidase
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year

25. How do cardia glycosides work
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Phenylalanine
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate

26. What makes up a nucleotide

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27. What is the rate determining enzyme (RDE) of glycolysis
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Phosphofructokinase 1
17 - 17 letters in von Recklinghausen
Promotor - TATA box - and CAAT box - AT rich

28. Which antihelminthe drugs work on microtubules
Consesus sequenec of base pairs
Superoxide dismutase
Paclitaxel
Mebendazole/thiabendazole

29. What lab value can distinguish orotic aciduria from ornithine transcarbamoylase def?
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
OTC has hyperammonemia - orotic aciduira does not
CAG
Foliage - small reserve in liver - eat green leaves

30. How does chloramphenicol work
SnRNPs
Kidney - ears - eyes
Protein kinase A
Inhibits 50S peptidyltransferase

31. What does the golgi add to serine and threonine residues
Pyruvate - NAD+ - CoA
O- oligosaccharaides
Uses ATP to add high energy phophate group onto substrate
Liver - also in kidney and gut epithelium

32. In eukaryotes - What does RNA poly II make
MRNA
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Proton gradient
Protective against malaria

33. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
Cre - lox system
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Disease
Alpha - ketoglutarate dehydrogenase complex

34. Describe the location and fxn of the Na/K ATPase
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
1 kind with multiple subunits

35. hepatosplenomegaly - aseptic necrosis of femur - bone crisis - MACS that look like crumpled tissue paper

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36. What does apoB48 do
Mediates chylomicron secretion
Base + ribose
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Nonsense > missense > silent

37. bilateral - massive enlargement of of kidneys due to multiple large cysts
B48 - AIV - CII - E
1 ring
ADPKD
FISH

38. What does desmin stain for
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
Muscle
Inhibits 50S peptidyltransferase
Adds an inorganic phosphate onto substrate without using ATP

39. What enzyme does fructose metabolism bypass to reach glycolysis
PFK - rate limiting enzyme
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Specific glycosylases - AP endonuclease
Catabolic processes to carry reducing equivalents away as NADH

40. What are the functinos of vitamin A
CarTWOlage
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
By inhibiting formation of the initiation complex and cause misreading of mRNA

41. What is the Name and function of vit B2
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
PCR - denaturation - annealing - elongation
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

42. What happens in carnitine def
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Eu - methionine - pro - formyl - methionine
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia

43. What metabolic rxns occur in both the cytoplasm and mitochondria
Attachment of ubiquitin to defective proteins tag them for breakdown
Active secretion in lungs and GI - reabsorbs in skin
LCAT (lecithin cholesterol acyltransferase)
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two

44. In eukaryotes - What does RNA poly I make
Alpha and beta tubulin - dimers have two GTP bound
Anabolic processes as a supply of reducing equivalents
RRNA
Orotate precursor - with PRPP added later

45. What causes Down syndrome
Must be both activated and inactivated for cell cycle to progress
CAG - 4
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21

46. What is the hardy weinber heterozygote prevalence
Dopa decarboxylase
Post to neg
Elastase - inhibited by alpha1 antitrypsin
2pq

47. Which part of the DNA binds RNA polymerase and multiple other TFs upstream from gene locus
Ribose 5- P to PRPP
CGG
Glycolysis and aerobic respiration
Promotor - TATA box - and CAAT box - AT rich

48. What is the rate limiting enzyme in cholesterol synthesis
Skin
Males are infertile due to bilateral absence of vas deferens
Medial dorsal nucleus of thalamus - mamillary bodies
HMG- CoA (HMG- CoA to mevalonate

49. What order kinetics does EtOH dehydrogenase have
Inhibits RNA polymerase II - found in death cap mushrooms
Zero
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Adds 2 carbon with the help of biotin

50. What is the defect in cystinuria
Consesus sequenec of base pairs
Glycine
Result from phagocytic removal of heinz bodies my macs - G6PD def
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT

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Biochemistry

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