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

Innerarity, TL, Mahley, RW, Weisgraber, KH, Bersot, TP, Krauss, RM, Vega, GL, Grundy, SM, Friedl, W, Davignon, J, McCarthy, BJ·1990·Journal of Lipid Research
DOI 10.1016/s0022-2275(20)42605-7
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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 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.

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Metadata

Authors
Innerarity, T., Mahley, R., Weisgraber, K., Bersot, T., Krauss, R., Vega, G., Grundy, S., Friedl, W., Davignon, J., & McCarthy, B.
Venue
Journal of Lipid Research
Publisher
Elsevier BV
Published
1990-08
Volume
31
Issue
8
Pages
1337-1349
ISSN
0022-2275
DOI
10.1016/s0022-2275(20)42605-7
Cited by
352
References
0
Language
en
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