apo e2
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Introduction
Structure
Pathology
- most patients with yperlipoproteinemia type-3 (familial dysbetalipoproteinemia) are homozygous for apo E2
- the apo E2 isoform results in defective binding of chylomicron & VLDL remnants to hepatic lipoprotein receptors, & decreased clearance from plasma
- however, additional genetic or environmental factors are necessary for expression of the disease since only 1-4% of persons homozygous for apo E2 develop familial dysbetalipoproteinemia
- inheritance of the apo E2 allele may confer protection against the development of Alzheimer's disease[3]
Laboratory
More general terms
Additional terms
- apolipoprotein E genotype
- apolipoprotein-E gene
- hyperlipoproteinemia type 3; familial dysbetalipoproteinemia; remnant hyperlipidemia; remnant hyperlipoproteinaemia; broad beta disease; remnant removal disease
References
- ↑ Mendelian Inheritance in Man (1990) MIM#107741
- ↑ Strittmatter WJ et al Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):1977-81 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8446617
- ↑ 3.0 3.1 Selkoe DJ. Alzheimer's disease: genes, proteins, and therapy. Physiol Rev. 2001 Apr;81(2):741-66. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11274343