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卵磷脂:胆固醇酰基转移酶(lecithin:cholesterol acyltransferase,LCAT)参与胆固醇酯的合成并在高密度脂蛋白(high density lipoprotein,HDL)的代谢中起重要作用。遗传性LCAT缺陷症是一种以低HDL-胆固醇(HDL-C)为特点的罕见遗传疾病。近年来,LCAT在HDL-C代谢中以及在动脉粥样硬化发生和发展中的作用逐渐被本领域研究者所关注。本文就LCAT缺陷症的遗传学和生化学特点做一综述,重点阐述为何尽管HDL-C水平明显减低,LCAT突变携带者却并未发生早期动脉粥样硬化。
Lecithin: cholesterol acyltransferase (LCAT) is involved in cholesterol ester synthesis and plays an important role in the metabolism of high density lipoprotein (HDL). Hereditary LCAT deficiency is a rare genetic disorder characterized by low HDL-cholesterol (HDL-C). In recent years, the role of LCAT in HDL-C metabolism and in the development and progression of atherosclerosis has gradually attracted the attention of researchers in the field. This review summarizes the genetic and biochemical features of LCAT deficiency and highlights why early LCAT did not occur in carriers of LCAT mutations, despite a significant reduction in HDL-C levels.