Calabresi L, Franceschini G
Center E. Grossi Paoletti, University of Milano, Italy.
Curr Opin Lipidol. 1997 Aug;8(4):219-24. doi: 10.1097/00041433-199708000-00005.
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.
低α脂蛋白血症可能源于编码载脂蛋白A-I（高密度脂蛋白的主要蛋白质成分）的基因缺陷，或对成熟高密度脂蛋白的形成/成熟至关重要的酶的缺陷。最近的信息与早期发现相矛盾，表明大多数受影响的受试者患冠心病的风险增加，与突变基因无关。载脂蛋白A-I基因的突变导致结构变异可能是一个可能的例外，这种变异甚至可能对动脉粥样硬化起到保护作用。
