Biochemistry Flashcards
I-cell Disease (Mucolipidosis II)
- Defective UDP-N-acetylglucosamine-1-phosphotransferase
- Hydrolases secreted (because mannose is not phosphorylated in golgi)→ misshapen bones, clouded corneas, restricted joints, and hyperplastic gums, “gargoyle facies”
Ornithine Transcarbamylase Deficiency
- Urea cycle disorder → hyperammonemia and increased orotic acid excretion in urine
- Treat by limiting protein intake so that excess ammonia is not produced, eat just enough to get essential amino acids
(Carbomoyl Phosphate Synthetase and N-acetyl glutamate are in the step before and will not produce excess orotic acid)
N-Acetylglutamate
- Essential to activate carbamoyl phosphate synthase (CPS1) in Urea cycle
Dihydrobiopterin Reductase Deficiency
-Low BH4 (which is needed for conversion of tyrosine –> DOPA by tyrosine hydroxylase)
- BH4 needed as cofactor for synthesis of Tyrosine, DOPA, serotonin, and NO
(in pathway for both Phenylalanine and Tryptophan)
Menke’s Disease
Kinky hair disease, low copper
Fructose 2,6 bisphosphate
- Fructose 2,6 bisphosphate activates glycolysis by inducing PFK1 and inhibiting fructose 1,6 bisphosphatase to stop gluconeogenesis
- Fed: PFK2 makes fructose 2,6 and also activates PFK1 to go towards glycolysis
- Starved: FBP makes fructose 2,6 go to fructose 6 towards gluconeogenesis
[Insulin increases Fructose 6P promoting PFK2 activity –> fructose 2,6, bisphosphate and glycosysis]
Splice Sites
GT at 5’ (GU in RNA) and AG at 3’
Supplementation for Children w/ Measles
Vitamin A
Aldose Reductase
Contributes to buildup of product in eye → cataract
- Glucose to sorbitol
- Galactose to galactitol
Fructokinase Deficiency vs Aldolase B Deficiency
Fructokinase deficiency: benign fructosuria
Aldose B: severe fructose intolerance w/ hypoglycemia
Pyrimidine Dimer Removal by:
Nucleotide Excision Repair
Reactions requiring Pyridoxine (B6)
Transamination reactions or Decarboxylation
Hartnup Disease
- Defective amino acid transport → diarrhea, dementia, dermatitis (resembles pellagra/niacin deficiency)
- Malabsorption of tryptophan (aromatic neutral AA’s) → aminoaciduria
- Treat with Niacin (B3)
Fanconi Syndrome
Generalized aminoaciduria (all amino acids)
Calories
Proteins: 4
Carbs: 4
Fats: 9
Blotting
SNoW DRoP
- Northern: RNA
- Southern: DNA
- Western: Protein
- Southwestern: DNA binding proteins (e.g. transcription factors, histones, nucleases)
Maple Syrup Urine Disase
- Impaired degradation of isoleucine, leucine, and valine
- Burnt sugar smell in diaper
Niemann-Pick Disease
- Sphingomyelinase deficiency
- Progressive neurologic deterioration
- Cherry Red Spot
Lesch-Nyhan Syndrome
HGPRT deficient → defective pruine salvage → hyperuricemia/gout, self-mutilation, retardation, dystonia
- Because of failure of the purine salvage pathway → de novo purine synthesis must increase to replace the lost bases → PRPP amidotransferase activity will increase
GLUT4 and GLUT2 Transporter
GLUT4 transporter: insulin dependent (increases translocation to cell membrane); skeletal muscle and adipose tissue
GLUT2: regulates insulin release; hepatocytes
Niacin (B3)
- NAD+ constituent
- Tryptophan is a precursor
- Flushing
Homocystinuria
- May resemble Marfan’s (long limbs, tall, subluxation of lenses) but also has mental retardation
- Buildup of methionine (homocysteine is remethylated by salvage pathway)
- Cystathionine synthase deficiency
RNA Polymerases
I: rRNA
II: mRNA
III: tRNA
Mitochondrial Myopathy
Ragged red fibers and Gomori trichrome
- Mitochondrial inheritance (maternal); heteroplasmy
Kreb’s Cycle: NADH, FADH, GTP production
NADH made: - Isocitrate to a-ketoglutarate - a-ketoglutarate to succinyl coA - Malate to oxaloacetate FADH made: - Succinate to fumarate GTP made: - Succinyl CoA to Succinate
Exclusively Ketogenic Amino Acids
Lysine and Leucine
Amino Acid binding site on tRNA
CCA at 3’ end
Apolipoprotein: A1
LCAT activation (esterification of cholesterol)
Apolipoprotein: B48
Chylomicron assembly and secretion by intestine
Produced by intestinal enterocytes (Truncated form of ApoB100)
Apolipoprotein: B100
LDL uptake by extrahepatic cells
Produced by hepatocytes
Apolipoprotein: CII
LPL activation
Apolipoprotein: E3 & E4
VLDL and chylomicron remnant uptake by liver
mRNA Stop Codons
UGA, UAG, UAA
- Binds releasing factor
- Last amino acid will be the codon before
Thiamine (B1) required for:
- Pyruvate dehydrogenase
- Transketolase (part of PPP)
- a-ketoglutarate dehydrogenase
- Branched-chain
PPP (Pentose Phosphate Pathway)
- HMP Shunt
- Takes place in the cytosol (e.g. Ketolase)
- G6PD enzyme
- Produces NADPH
Mitochondrial Processes
- Beta oxidation of FAs
- Ketogenesis
- Krebs cycle
- Parts of urea cycles
- Pyruvate carboxylation
- Parts of heme synthesis
Phenylalanine Conversions
Phenylalanine (via tyrosine hydroxylase) → tyrosine:
- Tyrosine → DOPA → dopamine
- Tyrosine → homogentisate →→→ fumarate
Propionic Acidemia
Propionic acid buildup due to propionyl CoA carboxylase deficiency which converts it to methylmalonyl coA
- Val, Ile, Met, Thr
- Odd chain FA’s
- Cholesterol branches
LAC Operon: Lactose binds ____
- Lactose binds repressor preventing it from binding the operon
______ converts Pro-carcinogens into Carcinogens
CYP450s (microsomal monooxygenase)
LAC Operon: Repressor binds _____
- Repressor binds operon (not promoter)
LAC Operon: RNA pol binds _____
- RNA pol binds promoter
LAC Operon: cAMP-CAP binds _____
- cAMP-CAP binds upstream of promote
LAC Operon: Glucose Present
- If glucose is present, it decreases adenylate cyclase –> decreases cAMP –> decreased expression of lac operon proteins
P-Bodies
mRNA is processed in nucleus (introns removed, capped and tailed) and enters cytoplasm where P bodies regulate translation and degradation of mRNA
When pH > pKa:
H+ protons dissociate
Eg. At 7.4 pH, pKa 2.2 (COOH would be COO-)
When pH
H+ protons bind
Eg. At 7.4 pH, pKa 10.2 (NH2 would be NH3+)
Hyperchylomicronemia (I)
- Very high level of chylomicrons (milky)
- May develop pancreatitis due to hypertriglyceridemia due to LPL deficiency
Familial Hypercholesterolemia (IIA)
Tendon xanthomas and xanthelasmas (eye-lids)
tRNA: D arm and T arm Function
- Close to 90 nucleotides in length of non-coding RNA
- D arm: has dihydrouracils, used to recognize the correct aminacyl tRNA synthetase
- T arm: has a sequence needed for tRNA to bind ribosome
Methylmalonyl-CoA to Succinyl-CoA requires ______
B12 only (isomerization reaction) - defects in this reaction lead to methylmalonic acidemia
7-a-hydroxylase
Converts cholesterol into bile acids (decreasing chance of gallstone formation)
B-glucoronidase
Released secondary to infection by injured hepatocytes and bacteria → hydrolysis of bilirubin glucoronides → increased unconjugated bilirubin in bile
- Increased risk of Brown pigment gallstones
PABA
Folic acid precursor in prokaryotes; Huamns cannot convert it to folic acid, so need dietary folic acid