High density lipoprotein and coronary heart disease: insights from mutations leading to low high density lipoprotein.
Hypoalphalipoproteinemia can result from defects in the genes encoding apolipoprotein A-I, 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-I gene leading to structural variants, that might even exert a protective effect against atherosclerosis.
Calabresi
L
L
Center E. Grossi Paoletti, University of Milano, Italy.
Franceschini
G
G
D016632:Apolipoprotein A-I / Q000235:genetics; D003327:Coronary Disease / Q000097:blood* / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008071:Lipoprotein Lipase / Q000235:genetics; D008075:Lipoproteins, HDL / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000235:genetics; D013631:Tangier Disease / Q000235:genetics
D016632:Apolipoprotein A-I; D008075:Lipoproteins, HDL; D007862:Phosphatidylcholine-Sterol O-Acyltransferase; D008071:Lipoprotein Lipase