High density lipoprotein and coronary heart disease: insights from mutations leading to low high density lipoprotein

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Abstract
Hypoalphalipoproteinemia can result from defects in the genes encoding apolipoprotein A-l, the major protein component of HDL, or enzymes that are critical for the formation/maturation of mature HDL. Recent information contradicts earlier findings, suggesting that most of the affected subjects are at increased risk of developing coronary heart disease, independent of the mutated gene. A possible exception is represented by mutations in the apolipoprotein A-l gene leading to structural variants, that might even exert a protective effect against atherosclerosis.

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