Center E. Grossi Paoletti, Department of Pharmacological Sciences, Università degli Studi di Milano, Via Balzaretti 9, 20133 Milano, Italy.
Atherosclerosis. 2012 Jun;222(2):299-306. doi: 10.1016/j.atherosclerosis.2011.11.034. Epub 2011 Nov 28.
The lecithin:cholesterol acyltransferase (LCAT) enzyme is responsible for the synthesis of cholesteryl esters in human plasma and plays a critical role in high density lipoprotein (HDL) metabolism. Genetic LCAT deficiency is a rare metabolic disorder characterized by low HDL cholesterol levels. This paper reviews the genetic and biochemical features of LCAT deficiency, highlighting the absence of enhanced preclinical atherosclerosis in carriers, despite the remarkably low HDL cholesterol.
卵磷脂胆固醇酰基转移酶（LCAT）酶负责人体血浆中胆固醇酯的合成，在高密度脂蛋白（HDL）代谢中发挥着关键作用。LCAT 遗传性缺乏是一种罕见的代谢紊乱，其特征是 HDL 胆固醇水平降低。本文综述了 LCAT 缺乏的遗传和生化特征，强调了尽管 HDL 胆固醇水平显著降低，但携带者中并未出现增强的临床前动脉粥样硬化。
