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18 Cards in this Set

  • Front
  • Back
Describe the lifecycle of a chylomicron
1) FFA+TGs enter intestine
2) Form chylomicrons in the enterocytes
3) Nascent chylomicron has B-48 receptor
4) HDL adds ApoE and apoC-II
5) Chylomicron binds to endothelial LPL via apoC-II
6) Hydrolyzed glycerol + FFA
Glycerol gets converted to G3P and used in VLDL. FFA gets converted to TAGs for storage in fat and are oxidized in muscle for energy
7) apoCII is returned to HDL
8) Chylomicron remanant binds to liver via apoE
HDL provides what apo proteins
apoC-II
apoE
How are VLDL levels related to HDL levels
Increase in VLDL leads to decrease in HDL
Mediators of hormone sensitive LPL
Insulin inhbit

ephinerphine and GH stimulate
Lead poisoning
Enzyme defect
Accumulated substrate
Sx
ALA dehydratase & ferrocheletase

Protoporphyrin ( in blood)

Sx
Microcytic anemia, GI and kidney disease
Children - mental deterioration
Adults - headache, memory loss, demyelination (exposure to battery/ammunition/radiator factory)

Lead lines
Encephalopathy and Erythrocyte basophilic stippling
Abdominal colic and sideroblastic anemia
Drops - wrist and foot drop
Prophyria cutanea tarda
Enzyme defect
Accumulated substrate
Sx
Uroporphyrinogen decarboxylase

Build up of Uroporphyrinogen III (tea colored pee)

Sx: Blistering cutaneous photosensitivty
Acute Intermittent porphyria
Enzyme defect
Accumulated substrate
Sx
Treatment
Prophobilinogen deaminase (aka Uroporphyrinogen synthase)

Buildup of porphobilinogen, ALA, uroporphyrin (urine)

Sx (5 Ps)
Pink urine
Painful abdomen
Polyneruopahty
Precipitated by drugs
Psychological Distrubances

Treatment: heme and glucose, which inhibit ALA synthase
Patient with abdominal pain + neuropyschiatric change + urine change on standing =
Acute intermittent porphyria
Vitamin whos stores last for years
B12
CAAT is used for what?
Transcription (promotor)
TATA is used for what?
Transcription (promotor)
Shine-Dalgarno is used for what?
Translation
2nd most common cause of mental retardation
Fragile X
Friedreich's ataxia
Autosomal recessive trinucleotide repeat GAA
Defect in the frataxin gene, leading to mitochondrial impairment (impaired mitochondrial iron homeostasis/cells more prone to apoptosis)
Sx: Pes cavus, hammer toe, ataxia, hypertrophic cardiomyopathy (cause of death), nystagmus, frequent falling
Degeneration of:
DRG, spinocerebellar/corticospinal tracts, posterior column

Presents in childhood w/ kyphoscoiosis
Mutation in Beta-thal affects what?
mRNA transcription, processing, and translation
Point mutations in splicing sites and promoter sequences
Rotenone does what?
Inhibits electron transport chain
What kind of receptor does PRL work on?
TRK
C. difficile toxin
A (enterotoxin) - causes neutrophil recruitment, leading to inflammation, loss of water (diarrhea), and mucosal death

B (cytotoxin) - actin depolymerization, loss of cell cytoskeleton, necrosis