Kaul D, Verma J S
Department of Experimental Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh.
Indian Heart J. 2002 Jan-Feb;54(1):88-90.
The study was addressed to explore the expression and functional activity of a novel cholesterol-specific cell surface receptor-Ck in a typical homozygous familial hypercholesterolemic family. Functional activity of receptor-Ck was characterized by its ability to downregulate Bcl-2 gene expression through a 47 kDa factor having an affinity for the sterol-regulatory element in the promoter region of this gene. The result of such a study revealed normal expression and functional activity of receptor-Ck accompanied by a lack of Apolipoprotein B-specific low-density lipoprotein receptor gene expression in the mononuclear cells derived from these patients. On the basis of these results, it is tempting to speculate that receptor-Ck may be involved in the maintenance of cellular cholesterol homeostasis observed in homozygous familial hypercholesterolemic patients.
该研究旨在探讨一种新型胆固醇特异性细胞表面受体Ck在一个典型的纯合子家族性高胆固醇血症家族中的表达及功能活性。受体Ck的功能活性表现为其能够通过一个对该基因启动子区域的固醇调节元件具有亲和力的47 kDa因子下调Bcl-2基因表达。该研究结果显示，受体Ck的表达和功能活性正常，而这些患者来源的单核细胞中载脂蛋白B特异性低密度脂蛋白受体基因表达缺失。基于这些结果，不禁推测受体Ck可能参与了纯合子家族性高胆固醇血症患者体内细胞胆固醇稳态的维持。
