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Biochemistry

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1. antbiotic controlled promoter to induciblly manipulate genes at specific developmental points
Poly A polymerase - signal is AAUAA
Active secretion in lungs and GI - reabsorbs in skin
PMNs
Cre - lox system

2. Which direction does dynein go
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Post to neg
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Promotor - TATA box - and CAAT box - AT rich

3. What does a phosphatase do
Removes phosphate group from substrate
RNA
Neurofibromatosis type 1 (von Recklinghausens disease)
Von hippel lindau - 3

4. What do def in in enzymes of gluconeogenesis cause
CAG - 4
SAM
Hypoglycemia
TRNA

5. What is the fxn of vit E
Neural tube
Makes RNA primer on which DNA poly III can initiate replication
Antioxidant - protects RBCs and membrances from free radical damage
Enhancers

6. What is the fxn of vit D
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
More than 1 codon may code for the same amino acid
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
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

7. What are CDKs
Cyclin dependent kinases;constitutive and inactive
Abnormal protein folding - degradation before reaching cell surface
Proline and glycine (non glycosylated forms)
Inc permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat

8. What does a pyruvate dehydrogenase deficiency lead to and What are the findings
Adds an inorganic phosphate onto substrate without using ATP
Dopa decarboxylase
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
B100

9. What is the Hardy Weinberg disease prevalence equation
Liver - ovaries - seminal vesicles
Oral uridine administration
P2 +2pq+ = 1
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora

10. How is Lesch Neyhan inherited
NF2 on chromosome 22
IDL
Inhibits 50S peptidyltransferase
X- linked recessive

11. What inhibits the carnitine shuttle
Malonyl coa
Targets the proteins for lysosome
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Arg - lys - his - arg is most basic - has has no charge at body pH

12. What is pseudohypertrophy in the calf a result of - and What are the cardiac manifestations
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Fibrofatty replacement of muscle - cardiac myopathy
In ER - glucose 6- P to glucose
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

13. What form of amino acids are found in proteins
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Malabsorption and steatorrhea (ADEK)
L form

14. What is the results of vit B1 def
Neurofibromatosis type 1 (von Recklinghausens disease)
Schilling test
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Wernicke - korsakoff - dry and wet beriberi

15. Of the four possible fates for pyruvate - which one carries amino groups to liver from muscle
Alanine
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Accelearted muscle breakdown
Unmethylated - newly synthesized - HNPCC

16. How is ammonium transported from muscle to the liver for urea cycle
Unmethylated - newly synthesized - HNPCC
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
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
Mediates chylomicron secretion

17. What substances directly inhibit electron transport chain
Rotenone - CN- - antimycin A - CO
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Neurons

18. What is the RDE of cholesterol synthesis
HMG- CoA reductase
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
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

19. What converts dopamine to NE
Dopamine beta hydroxylase
Arg and his inc in histones Which bind negatively charged DNA
Read from a fixed starting point as a continuous sequence of bases
Q -

20. What does a dehydrogenase do
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
RNA
Oxidizes substrate
Oligomycin

21. What are the purely ketogenic amino acids
Leu - lys
After citruline
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway

22. Outside the fibroblast What part of procollagen is cleaved and What is it transformed into
Glycogen synthase
Biotin
Terminal regions - tropocollagen
Creat a nick in the helix to relieave supercoils created during replication

23. characterize mitochondrial inheritance
Base + ribose + phosphate (3' -5') phosphodiester bond
Transmitted only through mother - all offspring of affected females may show signs of disease
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination

24. What is the RDE of de novo purine synthesis
Oxidative is irreversible
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Glutamine PRPP amidotransferase

25. What defects characterize DiGeorge syndrome
Thymic - parathyroid and cardiac
Methionine encode by only 1 codon (AUG)
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)

26. What sugar is sorbitol converted to and via what enzyme - and What can happen in cells lacking this enzyme
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Krabbes - galactocerebrosidase - galactocerebroside - AR
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)

27. What is the TX for hyper ammonemia
APRT + PRPP
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Carnitine acyltransferase I
Pyruvate to oxaloacetate (3C to 4C)

28. What are the priorities for the body in fasting and starvation
One
Acetoacetate and beta hydroxybutyrate
Supply sufficient glucose to brain and RBCs and to preserve protein
Inc intestinal absorption fo calcium and phosphate - inc bone resorption

29. What is the RDE of gluconeogenesis
2 -4 DNP - aspirin
Vincritsine/vinblastine
RRNA
Fructose 1 -6 bisphosphate

30. In which state is PFK-2 active
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
Fed
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
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

31. Describe robertsonian translocation
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Alpha1 antitrypsin
Neither of 2 alleles is dominant - blood groups

32. A small proportion of Down syndrome is due to What two genetic events
1 ring
Robertsonian translocation and mosaicism
Alpha 1 -4 glucosidase
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

33. Where is acetaldehyde located
Mitochondria
30 - 50 - 70
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
DNA

34. How many ATP are produced by anearobic glycolysis per molecule of glucose
VMA
Ca/calmodulin in muscle to coordinate with muscle activity
Two
FMR1 gene - methylation - associated with chromosomal breakage

35. What enzyme turns ROS to H2O2
Superoxide dismutase
B12 and folate
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
ATP and alanine

36. Which amino acids are elastin rich in
Proline and glycine (non glycosylated forms)
75 to 90 - cloverleaf
17 - 17 letters in von Recklinghausen
Alpha - ketoglutarate dehydrogenase complex

37. What happens in vit B2 def
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Failure to track objects or develop a social smile
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)

38. Which direction does kinesin go
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
Tryosine hydroxylase
Neg to pos
Glycogen synthase

39. What is Retin A used topically for
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Wrinkles and acne
Liver and leafy veggies
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

40. What does SAM do
Stop codon is recognized by release factor - and completed protein is released from ribosome
Transfers methyl units
Keep glutathione reduced so it can detoxify free radicals and peroxides
PCR - denaturation - annealing - elongation

41. What are the function of vit C
ATP
Dermatitis - glossitis - and diarrhea
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
Inhibits 50S peptidyltransferase

42. inc glycogen in muscle but can't break it down - painful muscle cramps - myglobinuria with strenuous exercise - dz and enzyme

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43. Where do you find elastin and What does it do
Activates LCAT
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Glucose 6 phosphate dehydrogenase (G6PD)
Pyruvate to oxaloacetate (3C to 4C)

44. The golgi apparatus fxns as a distribution center between what organelles in the cell and What does it process
HVA
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles

45. What components come together to make S- adenosyl methionine
Night blindness - dry skin
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
ATP and methionine
Glycine - aspartate - glutamine

46. What two enzymes are involved in EtOH metabolism
DTMP
EtOH dehydrogenase and acetaldehyde dehydrogenase
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

47. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
RER
CFTR gene - 7 - Phe 508
In ER - glucose 6- P to glucose
Four

48. In which structures do you find microtubules
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Flagella - cilia - mitotic spindles
After day 1

49. In a 1000 meter run - Where does energy come from
Phenylalanine
Same as sprint + OXPHOS
Base + ribose
Inhibits the Na/K pump by binding the K side

50. ADPKD is associated with What additional conditions
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
Alpha1 antitrypsin
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Polycystic liver disease - berry aneurysm - mitral valve prolapse

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Biochemistry

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