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 journalArticle

336 Citations (Scopus)

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

Fingerprint

Apolipoprotein B-100
Hyperlipoproteinemia Type II
Apolipoproteins B
Hypercholesterolemia
LDL Lipoproteins
Mutation
Inborn Genetic Diseases
LDL Receptors
Canada
Plasmas
Amino Acids
Population

Keywords

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

ASJC Scopus subject areas

  • Endocrinology

Cite this

Innerarity, T. L., Mahley, R. W., Weisgraber, K. H., Bersot, T. P., Krauss, R. M., Vega, G. L., ... McCarthy, B. J. (1990). Familial defective apolipoprotein B-100: A mutation of apolipoprotein B that causes hypercholesterolemia. Journal of Lipid Research, 31(8), 1337-1349.

Familial defective apolipoprotein B-100 : A mutation of apolipoprotein B that causes hypercholesterolemia. / Innerarity, T. L.; Mahley, R. W.; Weisgraber, K. H.; Bersot, T. P.; Krauss, R. M.; Vega, Gloria L; Grundy, Scott M; Friedl, W.; Davignon, J.; McCarthy, B. J.

In: Journal of Lipid Research, Vol. 31, No. 8, 1990, p. 1337-1349.

Research output: Contribution to journalArticle

Innerarity, TL, Mahley, RW, Weisgraber, KH, Bersot, TP, Krauss, RM, Vega, GL, Grundy, SM, Friedl, W, Davignon, J & McCarthy, BJ 1990, 'Familial defective apolipoprotein B-100: A mutation of apolipoprotein B that causes hypercholesterolemia', Journal of Lipid Research, vol. 31, no. 8, pp. 1337-1349.
Innerarity TL, Mahley RW, Weisgraber KH, Bersot TP, Krauss RM, Vega GL et al. Familial defective apolipoprotein B-100: A mutation of apolipoprotein B that causes hypercholesterolemia. Journal of Lipid Research. 1990;31(8):1337-1349.
Innerarity, T. L. ; Mahley, R. W. ; Weisgraber, K. H. ; Bersot, T. P. ; Krauss, R. M. ; Vega, Gloria L ; Grundy, Scott M ; Friedl, W. ; Davignon, J. ; McCarthy, B. J. / Familial defective apolipoprotein B-100 : A mutation of apolipoprotein B that causes hypercholesterolemia. In: Journal of Lipid Research. 1990 ; Vol. 31, No. 8. pp. 1337-1349.
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