Genetic abnormalities in apolipoprotein B.

Young SG, Linton MF
Trends Cardiovasc Med. 1991 1 (2): 59-65

PMID: 21239331 · DOI:10.1016/1050-1738(91)90011-3

Recent studies have demonstrated that mutations in the apolipoprotein (apo-) B gene can cause significant alterations in blood cholesterol levels. A variety of apo-B gene mutations that prevent the translation of a full-length apo-B molecule can lead to low blood cholesterol levels. A missense mutation in the apo-B gene has been described that prevents the binding of the apo-B100-containing lipoproteins to the low-density lipoprotein receptor, thereby causing them to be cleared slowly from the plasma. This mutation results in high blood cholesterol levels. Analyzing the different apo-B gene mutations has increased our understanding of the wide variation in cholesterol levels in the general population and has increased our understanding of the structure and function of apo-B.

Copyright © 1991. Published by Elsevier Inc.

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