a syndrome where Ca+2/ fats/cholesterols collect in blood vessels = plaque = MI and/or stroke
| apolipoprotein E (ApoE) |
- enzyme essential in normal
catabolism of triglyercide-rich lipoproteins, - regulates blood levels of certain fats via transport of lipoproteins, fat-soluble vitamins & cholesterol into lymph and then into blood via 7 low density lipoprotein receptors, - gene is found on chromosome 19, has 299 amino acids and consists of 4 exons and 3 introns totaling 3,597 bp's. |
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ApoE is a polymorphic gene with 3 gene variants of apolipoprotein E amino acid sequence;
the 3 variants differ from each other only by single amino acids at positions 112 & 158.
E2 - 4% of population have 2 copies of this gene & are vulnerable to high cholesterol/fat diets;
poor receptor binding resulting in type-III hyperlipoproteinemia. [CYS at 112 & 158]
E3 - normal & most common form of gene in Europeans/Caucasians & is healthiest variant
[CYS at 112 & ARG at 158]
E4 - one amino acid letter differs from E3 gene;
7% of population has 2 copies of this gene = atherosclerosis & Alzheimer risk,
impaired cognitive function and reduced neuron cell body growth; [ARG at 112 & 158]
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