JAS:Genes/APOE

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Human apoE is composed of 299 amino acids and mediates tissue uptake of triglyceride-rich lipoproteins through both low-density lipoprotein (LDL) receptor and LDL-receptor-related protein pathways.

High serum concentration of apolipoprotein E (apoE) induces thrombi in intraglomerular capillaries, causing lipoprotein glomerulopathy (LPG). Patients with LPG show nephrotic syndrome and an end-stage renal failure.

Genetic variations at the apoE gene locus code for three different isoforms:

  • E2 (wild type) ... defective in receptor binding
  • E3 (Arg158Cys) ... type III hyperlipoproteinemia
  • E4 (Cys112Arg) ... atherosclerosis and Alzheimer's disease
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