Genetic abnormalities in apolipoprotein B

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.