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ATP结合框转运子A1(ATPbindingcassettetransporterA1,ABCA1)基因突变所引起的Tangier病 (Tangierdisease ,TD)是一种严重的高密度脂蛋白 (HDL)缺陷综合征 ,伴随巨噬细胞内胆固醇沉积 ,明显增加患心血管疾病的风险。临床及动物实验表明 ,ABCA1可以促进胆固醇和磷脂向乏脂或无脂的HDL前体载脂蛋白AⅠ (apoAⅠ )转移 ,启动HDL的生成 ,是血浆HDL水平和冠心病易感性的重要决定因素。许多过程可调节组织中ABCA1的表达和分布。ABCA1在胆固醇代谢 ,清除组织内过多胆固醇 ,预防动脉粥样硬化等方面起着重要作用。本文就ABCA1的结构、功能、基因表达的调控与动脉粥样硬化的关系作一简述。
Tangier disease (Tangier disease, TD), caused by the mutation of ATP binding box transporter A1 (ABCA1), is a severe HDL deficiency syndrome accompanied by a marked increase in cholesterol deposition in macrophages The risk of cardiovascular disease. Clinical and animal experiments show that ABCA1 can promote the transfer of cholesterol and phospholipids to apolipoprotein AⅠ (apoAⅠ) of lipophilic or non-fat HDL precursors and initiate the production of HDL, which is an important determinant of plasma HDL levels and coronary heart disease susceptibility. Many processes regulate the expression and distribution of ABCA1 in tissues. ABCA1 plays an important role in cholesterol metabolism, clearance of excessive cholesterol in the tissues and prevention of atherosclerosis. This review summarizes the relationship between ABCA1 structure and function, gene expression regulation and atherosclerosis.