Harangi Mariann, Köbling Tamás, Paragh György
Debreceni Egyetem, Orvos- és Egészségtudományi Centrum, I. Belgyógyászati Klinika, Anyagcsere-betegségek Tanszék, Debrecen.
Orv Hetil. 2006 Feb 12;147(6):251-7.
The role of transmembrane lipidtransporter molecules in the atherosclerotic process. The protective effect of high-density lipoprotein in the atherosclerotic process has been mainly attributed to its role in reverse cholesterol transport. Identification of mutations in the ATP-bindig casette transporter-A1 (ABCA1) as the genetic defect in genetic high-density lipoprotein-deficiency (Tangier disease) and selected patients with familiar hypoalphalipoproteinemia has generated interest in discovering the role of this lipid transporter molecule in the reverse cholesterol transport. It is well established, that the ABCA1 mediates cellular cholesterol efflux through transfer of phospholipids and cholesterol from the inner to the outer layer of the cell membrane, thus enabling the bindig to apolipoproteins. Previous studies showed that the ABCA1 is critically involved in cellular trafficking of cholesterol and phospholipids in total body of lipid homeostasis. In Tangier disease, the loss of the function of ABCA1, leads to an impaired formation of nascent high-density lipoprotein particles by preventing the release of cellular phospholipids and cholesterol to the acceptor apolipoprotein A1. This rare genetic disorder is characterized by a severe high-density lipoprotein deficiency, cholesterol deposition in macrophages and premature atherosclerosis. These findings implicate the ABCA1 as an important therapeutic target for preventing diseases that are associated with accelerated atherogenesis. The present review summarizes the current knowledge of the ABCA1, its pivotal role in the cholesterol homeostasis and preventing atherosclerosis.
跨膜脂质转运蛋白分子在动脉粥样硬化进程中的作用。高密度脂蛋白在动脉粥样硬化进程中的保护作用主要归因于其在胆固醇逆向转运中的作用。ATP结合盒转运体A1(ABCA1)突变被鉴定为遗传性高密度脂蛋白缺乏症(丹吉尔病)以及部分家族性低α脂蛋白血症患者的基因缺陷,这引发了人们对该脂质转运蛋白分子在胆固醇逆向转运中作用的研究兴趣。众所周知,ABCA1通过将磷脂和胆固醇从细胞膜内层转运至外层来介导细胞胆固醇外流,从而使其能够与载脂蛋白结合。先前的研究表明,ABCA1在全身脂质稳态中胆固醇和磷脂的细胞转运过程中起着关键作用。在丹吉尔病中,ABCA1功能丧失,通过阻止细胞磷脂和胆固醇向载脂蛋白A1受体释放,导致新生高密度脂蛋白颗粒形成受损。这种罕见的遗传疾病的特征是严重的高密度脂蛋白缺乏、巨噬细胞中胆固醇沉积以及过早发生动脉粥样硬化。这些发现表明ABCA1是预防与动脉粥样硬化加速相关疾病的重要治疗靶点。本综述总结了目前关于ABCA1的知识,及其在胆固醇稳态和预防动脉粥样硬化中的关键作用。