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Biochemistry

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1. How is ATP used by the cell
ATP hyrdolysis couple to energetically unfavorable rxns
FISH
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
Connective tissue

2. What does the deletion of the dystrophin gene lead to...
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Poly A polymerase - signal is AAUAA
CAG
Accelearted muscle breakdown

3. How do cardia glycosides work
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Hypoxanthine to xanthing and xanthine to uric acid
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Night blindness - dry skin

4. Describe the location and fxn of the Na/K ATPase
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects

5. What is the RDE of the urea cycle
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
By inhibiting formation of the initiation complex and cause misreading of mRNA
Schilling test
Carbomoyl phosphate synthetase I

6. How do you diagnose CFTR
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Hyperlipidemia
Avidin
Inc Cl - in sweat

7. Pts with albinism are at inc risk For what cancer
4 under the floor
Skin
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Anabolic processes as a supply of reducing equivalents

8. What causes Edwards syndrome and What is it
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year
Oral uridine administration
Carbomoyl phosphate synthetase I
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

9. What does glycosylation of pro alpha chian yield and What is the structure
Mucus secreting globlet cells and antibody secreting plasma cells
Procollagen - triple helix of 3 alpha collagen chains
Nine
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele

10. Name 5 drugs that interfere with nucleotide synthesis
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
4 under the floor
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
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia

11. What does apoCII do
Promotor - TATA box - and CAAT box - AT rich
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Post to neg
Cofactor for LPL

12. Type I collagen
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Degradation of TG stored in adipocytes

13. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
Blood - bone marrown - amniotic fluid - placental tissue
BOne
RER
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility

14. What is NADPH used for
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Anabolic processes as a supply of reducing equivalents
Carbomoyl phosphate synthetase I
Fed

15. congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosine to fumarate leading to dark connective tissue - brown pigmented sclera - urine turns black on standing - dz and worst complication
Ile - phe - thr - trp
IMP precursor
Alkaptonuria - may have debiliating arthralgias
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

16. What is the energy source for tRNA actication (charging)
Inc dicarboxylic acids - dec in glucose and ketones
Liver and leafy veggies
ATP
Each codon specifies only 1 amino acid

17. What drugs can cause folate def
More than 1 codon may code for the same amino acid
ATP
Dermatitis - enteritis - alopecia - adrenal insuff
Phenytoin - MTX - and sulfonamides

18. What does fomepizole do
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning

19. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
Anabolic processes as a supply of reducing equivalents
Carbomoyl phosphate synthetase I
Same as sprint + OXPHOS
PCR - denaturation - annealing - elongation

20. Describe the pathophys of the aorta in a pt with marfans - and the eyes
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Carnitine acyltransferase I
Defect in fibrillin
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus

21. What is the RDE of TCA cycle
Isocitrate dehydrogenase
III - joint dislocation - anuerysms - organ rupture
Failure to track objects or develop a social smile
Makes RNA primer on which DNA poly III can initiate replication

22. What are purines made from
IMP precursor
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
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

23. Which enzyme involved in RNA synthesis does not require a template
Oxidized hemoglobin precipiated within RBCs
Neg to pos
ATP
Poly A polymerase - signal is AAUAA

24. Of the four possible fates for pyruvate - which one carries amino groups to liver from muscle
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Alanine
NADH - NADPH - FADH2

25. What is uniparental disomy
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Dec DNA - dec lymphos leads to SCID
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Medial dorsal nucleus of thalamus - mamillary bodies

26. What shape does the RNA generate during splicing and why?
Inc insulin - dec cAMP - dec PKA
Lariat shape in order and remove intron precisely and join 2 exons
Adipse tissue stores - keton bodies become the main source of energy fo the brain and heart - after these are depleted - vital protein degradation accelerates - leading to organ failure and death
Read from a fixed starting point as a continuous sequence of bases

27. What is the exception to genetic redundancy
Alpha and beta tubulin - dimers have two GTP bound
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Methionine encode by only 1 codon (AUG)
Alpha 1 -4 glucosidase

28. depression - progressive dementia - choreiform movements - caudate atrophy and dec levels of GABA and ACH in the brain
Y shaped region along the DNA template where leading nad lagging strands are synthesized
CAG - 4
Huntingtons
AMP - fructose 2 -6 BP

29. characterize autosomal recessive inheritance
Neurofibromatosis type 1 (von Recklinghausens disease)
Mitochondria
1/4 of offspring from 2 carrier parents are affected - often enzyme def - usually only seen in 1 generation - often more sever than AD - presents in childhood
SAM

30. What are the 3 AR forms of homocystinuria
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Actin and myosin
Chronic granulomatous disease - no respiatory burst - no formatino of ROS

31. How does ethanol induce hypoglycemia
CarTWOlage
Glucose - 2Pi - 2ADP - 2NAD+
Glycolysis and aerobic respiration
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users

32. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
1 kind with multiple subunits
Phenylalanine hydroxylase
Oxalacetate
30 - glycerol -3- phosphate shuttle

33. What does primase do
Dermatitis - glossitis - and diarrhea
Makes RNA primer on which DNA poly III can initiate replication
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
P+q = 1

34. What residues are hydroxylated in step 2 of collagen synthesis - and What does this require
Proline and lysine - vit C
Ile - phe - thr - trp
Diphyllobothrium latum
Superoxide dismutase

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

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36. Where is vit B12 found
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Von Gierke's - Pompe - Cori - McArdle
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs

37. What do albinism - ARPKD - CF - glycogen storage diseases - hemochromatosis - mucopolysaccharidoses (except Hunters) PKU - sickle cell - sphingolipodoses (except Fabrys) thalassemias have in common
Autosomal recessive diseases
Ca/calmodulin in muscle to coordinate with muscle activity
Diphyllobothrium latum
More than 1 codon may code for the same amino acid

38. What else can phosphoylate phosphorylase kinase
Ca/calmodulin in muscle to coordinate with muscle activity
Bind 30s subunit preventing attachment of aminoacyl - tRNA
LDL
Glucose 6 phosphate dehydrogenase (G6PD)

39. What does apoB48 do
Mediates chylomicron secretion
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Heterochromatin = HighlyCondensed
Reads usual codon but inserts wrong AA

40. What is dominant negative mutation and give an example
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
High output cardiac failure - dilated cardiomyopathy - edema
Hereditary spherocytosis
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

41. Describe robertsonian translocation
Inhibits the Na/K pump by binding the K side
Tyrosine
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22

42. What causes maple syrup urine disease and What does it lead to...
OTC has hyperammonemia - orotic aciduira does not
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
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Wrinkles and acne

43. What does SAM do
RNA
Transfers methyl units
Alpha and beta tubulin - dimers have two GTP bound
Rb and p53

44. What is the RER called in neurons and What is made there
Adds an inorganic phosphate onto substrate without using ATP
Oxidizes substrate
Nissl body - enzyme and NTs
Exons

45. What two cells are particularly rich in RER
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Microtubules
Mucus secreting globlet cells and antibody secreting plasma cells
Dermatitis - glossitis - and diarrhea

46. How does insulin inhibit glycogenolysis
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Keep glutathione reduced so it can detoxify free radicals and peroxides
HMG- CoA reductase
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

47. What is the breakdown product of dopamine
Hypoxanthine to xanthing and xanthine to uric acid
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Accelearted muscle breakdown
HVA

48. What initiates protein synthesis
PFK - rate limiting enzyme
Avidin
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase

49. What is the function of folic acid
APKD1 on chromosome 16
HGPRT - defective purine salvage - excess uric acid production
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA

50. What are uncoupling agents
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
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Von Gierke's - Pompe - Cori - McArdle
Read from a fixed starting point as a continuous sequence of bases

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Biochemistry

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