Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia

J Lipid Res. 1990 Aug;31(8):1337-49.


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 approximately 1/500 in these populations. Thus, it appears that this newly described disorder may be a significant genetic cause of hypercholesterolemia in Western societies.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Apolipoprotein B-100
  • Apolipoproteins B / chemistry
  • Apolipoproteins B / genetics*
  • Female
  • Genes
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Male
  • Mutation*
  • Pedigree
  • Restriction Mapping


  • Apolipoprotein B-100
  • Apolipoproteins B