Abstract
Familial defective apolipoprotein B-100 is a genetic disorder of apolipoprotein B-100 that causes moderate to severe hypercholesterolemia. A single amino acid mutation in apolipoprotein B diminishes the ability of low density lipoproteins to bind to the low density lipoprotein receptor. Low density lipoproteins accumulate in the plasma because their efficient receptor-mediated catabolism is disrupted. This mutation has been identified in the United States, Canada, and Europe and is estimated to occur at a frequency of ~1/500 in these populations. Thus, it appears that this newly described disorder may be a significant genetic cause of hypercholesterolemia in Western societies.
Original language | English (US) |
---|---|
Pages (from-to) | 1337-1349 |
Number of pages | 13 |
Journal | Journal of lipid research |
Volume | 31 |
Issue number | 8 |
State | Published - 1990 |
Keywords
- Atherosclerosis
- Cholesterol
- Genetic mutation
- LDL
- LDL receptor
- Review
ASJC Scopus subject areas
- Biochemistry
- Endocrinology
- Cell Biology