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

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

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Gladstone Foundation Laboratories for Cardiovascular Disease, University of California, San Francisco 94140-0608.


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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