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Biochemistry

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1. What makes up a nucleoside
2pq
Base + ribose
GAA
Stored ATP - creatine phosphate - anaerobic glycolysis

2. What does Alports syndrome cause and why
Blood - bone marrown - amniotic fluid - placental tissue
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
40 - 60 - 80
Four

3. How many ATP are produced by anearobic glycolysis per molecule of glucose
Glucose -6 phosphate
BOne
Two
Williams syndrome

4. What causes maple syrup urine disease and What does it lead to...
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
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
Acetoacetate and beta hydroxybutyrate
Glycogen phosphorylase

5. What does the golgi assemble proteoglycans from
Phenylalanine
Core proteins
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Foliage - small reserve in liver - eat green leaves

6. What are the reactants for glycolysis
SAM
Alkaptonuria - may have debiliating arthralgias
Glucose - 2Pi - 2ADP - 2NAD+
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells

7. What is variable expression and What is an example
Proton gradient
Same AA - often base change in 3rd position of codon (tRNA wobble)
Nature and severity of phenotype vary from 1 individual to another - NF type 1
32 - malate aspartate shuttle

8. What clotting factors require vit K
Von gierkes - glucose 6 phosphatase
II - VII - IX - X (1972) protein C and S
Dec methionine - inc cystiene - inc B12/folate
Free ribosomes

9. What apolipoprotiens are on VLDL
Intermediate filaments
B-100 - CII and E
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Proline and lysine - vit C

10. What does a kinase do
P2 +2pq+ = 1
Mcardle's - skeletal muscle glycogen posphorylase
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
Uses ATP to add high energy phophate group onto substrate

11. What is the amino acid precursor for GABA and glutathione
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE
Glutamate
Ketone - methyl
IDL

12. What enzyme results in classic galactosemia and What is the clinical
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Alpha1 antitrypsin
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
Oxidizes substrate

13. What does apoCII do
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Malabsorption and steatorrhea (ADEK)
Cofactor for LPL
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

14. What is the RDE of the HMP shunt
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Q -
Glucose 6 phosphate dehydrogenase (G6PD)

15. What are the findings in PKU
Cartilage - hyaline - vitreous body - nucleus pulposus
Tyrosine
Abnormal protein folding - degradation before reaching cell surface
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor

16. If two alleles are present - but the active allele is deleted - what happens
Protein kinase A
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
Disease
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production

17. What does a phosphatase do
Uses ATP to add high energy phophate group onto substrate
Removes phosphate group from substrate
Marasmus - muscle wasting
Arg - lys - his - arg is most basic - has has no charge at body pH

18. What happens in vit B2 def
Initiate chains
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Alkaptonuria - may have debiliating arthralgias

19. Which anticancer drugs work on microtubules
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Nine
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Vincritsine/vinblastine

20. What are the physical findings of fragile x syndrome
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Four
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Cytosol

21. Type III collagen
ATP
Supply sufficient glucose to brain and RBCs and to preserve protein
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
After day 1

22. What amino acid makes up most of the octamer
By inhibiting formation of the initiation complex and cause misreading of mRNA
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Protective against malaria
Lysine and arginine

23. What causes Edwards syndrome and What is it
Phenylalanine
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
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
African Americans and Asians

24. What 3 steps in RNA processing occur after transcription

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25. In a 1000 meter run - Where does energy come from
Same as sprint + OXPHOS
Hereditary spherocytosis
Phenylketones in urine
Unwinds DNA template at replcation fork

26. What does acetyl - CoA become before becoming palmitate
GTP
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Ribos first then deoxyribos with ribonucleotide reductase
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele

27. What is chediak higashi
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Kidney - ears - eyes
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine

28. What does aminoacyl tRNA synthetase do the AA before and after it binds to tRNA - and what happens if it's the wrong the match
Scrutinizes - hydrolyzes the bond
Consesus sequenec of base pairs
VLDL
CTG

29. What are pyrimidines made from
CarTWOlage
ATP and alanine
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Orotate precursor - with PRPP added later

30. How does ouabain work
Inhibits the Na/K pump by binding the K side
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
UDP glucose pyrophosphorylase

31. Synthesis of vit B3 requires what other vitamin
B6
P+q = 1
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Oral uridine administration

32. What are the symptoms of vit A def
Collagen
Night blindness - dry skin
Targets the proteins for lysosome
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast

33. What rxn does propionyl - CoA carboxylase catalyze
Oral uridine administration
Liver and leafy veggies
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
One

34. What induces pyruvate kinase
Transfers methyl units
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
F16BP
Hypoglycemia

35. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Purines= A - G pyrimidine = C - T (U)
Hypoglycemia
Oxalacetate

36. Which phase of the HMP shunt is reversible and Which is irreversible
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
Unmethylated - newly synthesized - HNPCC
Oxidative is irreversible
Transmitted only through mother - all offspring of affected females may show signs of disease

37. What does lactase deficiency cause
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Microarrays
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons

38. spheroid RBCs due to spectrin or ankyrin defect - hemolytic anemia - inc MHCH - splenectomy is curative
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Hereditary spherocytosis
Protein

39. Where does gluconeogenesis primarily happen and What are other sites where the enzymes are located
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Liver - also in kidney and gut epithelium
Transmitted only through mother - all offspring of affected females may show signs of disease
CarTWOlage

40. peripheral neuropathy - developmental delay - optic atrophy - glopoid cells
NAD+
Acetyl - CoA to malonyl - CoA (2C to 3C)
Krabbes - galactocerebrosidase - galactocerebroside - AR
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted

41. cytoskeletal elements associated with cilia - flagella - mitotic spindle - neurones and centrioles
Exons
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Microtubules

42. How does chloramphenicol work
Inhibits 50S peptidyltransferase
Glycogen synthase
Lactate
Glycogenolysis to form glucose

43. What is the amino acid precuros for niacin and serotonin/melatonin
Tryptophan
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Glycine - aspartate - glutamine
PMNs

44. What causes Hartnup's disease
Palate - facial and cardiac defects
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea

45. Type I bone
F16BP
Infection - free radicals generated by inflammatory response
BOne
ATP hyrdolysis couple to energetically unfavorable rxns

46. What happens at the smooth ER
SnRNPs
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Site of steroid synthesis and detoxification of drugs and poisons
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex

47. progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly
FAP
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR

48. What is the Hardy Weinberg disease prevalence equation
Catabolic processes to carry reducing equivalents away as NADH
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
P2 +2pq+ = 1
BOne

49. What happens in zinc def
Proline and lysine - vit C
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
Leu - lys
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis

50. What is the Name and fxn of vit B12
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Four
Vit K antagonist
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

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Biochemistry

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