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English Wikipedia
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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 BJJ Lipid Res 1990[Aug]; 31 (8): 1337-49Familial 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.|*Mutation[MESH]|Apolipoprotein B-100[MESH]|Apolipoproteins B/chemistry/*genetics[MESH]|Female[MESH]|Genes[MESH]|Humans[MESH]|Hyperlipoproteinemia Type II/*genetics[MESH]|Male[MESH]|Pedigree[MESH]|Restriction Mapping[MESH] |
