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Biochemistry PDF
Biochemistry PDF
3. Cholesterol synthesis:
a. Producing one molecule of IPP = 3ATP
b. Squalene synthesis = 2 molecules of Farnesyl pyrophosphate [3ATP x 3] + NADPH
c. HMG CoA reductase:
a. Upregulated by insulin and thyroxine
b. Downregulated by glucagon and corticosteroids
6. Tangiers disease: Deficiency of ABCA1; no efflux of Cholesterol from peripheral tissues into HDL
9. Pantothenic acid:
a. Component of CoA
b. Attached to Fatty acid synthase as 4 phosphopantetheine
10. Acetyl CoA carboxylase - catalyzes first step in fatty acid synthesis; naturally inhibited during fasting
16. Transformation:
a. Uptake of naked DNA from the environment --> expresses encoded proteins
b. Phenomenon not seen if experiment conducted in the presence of DNAse
c. Virulent form is capsulated
a. Strep pneumoniae
b. H influenzae
c. Neisseria
d. Bacillus
d. Differentiate with transduction (specialized vs general), conjugation, transposons
17. Transposons:
a. Mobile genetic elements
b. May end up close to a promoter/suppressor region; or into a plasmid
18. Citrate and ATP is a high energy signal, inhibits PFK1 (glycolysis) and stimulates acetyl CoA carboxylase
(fatty acid synthesis).
21. Hurler - alpha L iduronidase deficiency, build up of heparan sulfate / dermatan sulfate
22. Tay-Sachs disease: Hexosaminidase deficiency; leads to GM2 accumulation
23. Ceramidase deficiency:
a. FARBER disease
b. AR
c. Painful and progressive joint deformity
d. Subcutaneous nodules
e. Granulomas in skin
28. Exopeptidases:
a. Procarboxypeptidase A/B
b. Aminopeptidase
34. Glycogen storage diseases - present later in life; not in the neonatal stage
35. Debranching enzyme - deficiency leads to Coris disease (Type III glycogen storage)
a. Accumulation of limit dextrins in hepatocytes
b. No fatty infiltration
b. Classic galactosemia
a. AR; more common
b. Galactose-1-phosphate uridyl transferase
c. Failure to thrive soon after birth; galactitol accumulation:
i. Hepatomegaly [can cause cirrhosis]
ii. Metabolic acidosis - normal anion gap
iii. Aminoaciduria
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Biochemistry Page 4
iii. Aminoaciduria
d. Accumulation of galactitol --> cataracts; galactonic acid --> metabolised by HMP shunt
40. Glycogen stores are depleted in 12-18 hours of fasting; thereafter gluconeogenesis maintains blood
glucose levels
a. Pyruvate --> OAA --> Malate --> OAA --> PEP
42. Fluoride inhibits enolase (decreases lactate production by bacteria, reduces dental caries)
43. Pb inhibits aconitase
48. Phenylketonuria:
a. Tyrosine becomes essential amino acid
57. Gluconeogenesis normally provides glucose from metabolic intermediates - glycerol, lactate, alpha
Ketoacids - from protein and TG breakdown.
58. Medium-chain fatty acyl CoA dehydrogenase deficiency:
a. AR
b. Severe hypoglycemia in kids
c. Hypoketonemia
d. Symptoms manifest as glycogen reserves are depleted after 18 hours of fasting
a. Nausea
b. Confusion and lethargy
c. Vomiting
e. You don’t need CPT shuttle for short and long chain fatty acyl CoA
f. Rx: Don’t fast
d. Refsum disease:
a. Strict avoidance of chlorophyll in diet
b. AR
c. Deficiency of PhyH; leads to neurological damage, cerebellar injury, periphral neuropathies
e. Zelllweger syndrome:
a. Genetic defects in targeting matrix proteins to peroxisomes
b. Infants cant properly make myelin
c. Hypotonia, siezures
d. Hepatomegaly, mental retardation, death
f. X Linked adrenoleukodystrophy:
a. Impaired transport of VLCFA across peroxisome membrane
70. Proteins:
a. Secondary structure - H bonds
b. Tertiary structure:
a. Ionic bonds
b. Hydrophobic bonds
c. Hydrogen bonds
d. Disulfide bonds
i. Between two cysteine residues
ii. Enhances ability to withstand denaturation
71. Hyperammonemia
a. NH3 + Glutamate --> Glutamine [Glutamine synthase]
a. Hyperosmolarity and mitochondrial dysfuncton
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a. Hyperosmolarity and mitochondrial dysfuncton
i. Damages the astrocytes
b. Depletes glutamate stores:
i. Reduced excitatory neurotransmitters
ii. Reduced neuronal energy production
c. Depletes alpha ketoglutarate:
i. NH3 is converted to glutamate using alpha ketoglutarate [glutamate dehydrogenase]
83. Homocystinuria:
a. Classic: Defect in cystathione beta synthetase (PLP + Serine)
b. B12 deficiency
a. Defect in methionine regeneration
87. Lipoic acid: required as a cofactor in the pyruvate dehydrogenase family enzymes
a. Causes lactic acidosis or maple syrup urine disease when deficient (if you don’t know why by now
then you're stupid)
90. G-protein
a. Anchoring of the Carboxyl tail after the 7 transmembrane domains to the cell membrane -
covalently anchored fatty chain
a. Palmitoylation (on cysteine residues)
b. Prenylation
c. Myristoylation
97. Enzymes don’t reduce Gibbs free energy, they just reduce the energy required to make the transition
state. Speeds up reaction in the direction governed by sign of Gibbs free energy.
99. Increasing the concentration of the enzyme in the reaction mixture increases the Vmax proportionately.
100. Carbohydrate (disaccharides):
a. Trehalase - alpha(1 --> 1)
b. Isomaltase - alpha(1 --> 6)
c. Maltase- alpha (1 --> 4)
d. Sucrase - alpha (1 --> 2)
105. Creatine - produced after methylation (SAM); from glycine and arginine
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105. Creatine - produced after methylation (SAM); from glycine and arginine
106. Methylmalonic acidemia
a. Deficiency of methylmalonyl CoA mutase
a. Accumulation of methylmalonic acid
b. Reduced conversion to succinyl CoA
b. Clinical features:
a. Lethargy, vomiting, tachypnea
b. Anion gap metabolic acidosis, ketosis + hypoglycemia
107. FFA - causes serine phosphorylation --> insulin resistance (similar method to glucagon, TNFalpha)