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

T. L. Innerarity, R. W. Mahley, K. H. Weisgraber, T. P. Bersot, R. M. Krauss, Gloria L Vega, Scott M Grundy, W. Friedl, J. Davignon, B. J. McCarthy

Research output: Contribution to journalReview articlepeer-review

352 Scopus citations

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 languageEnglish (US)
Pages (from-to)1337-1349
Number of pages13
JournalJournal of lipid research
Volume31
Issue number8
StatePublished - 1990

Keywords

  • Atherosclerosis
  • Cholesterol
  • Genetic mutation
  • LDL
  • LDL receptor
  • Review

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology
  • Cell Biology

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