Shepherd J, Packard C J
Department of Pathological Biochemistry, Royal Infirmary, Glasgow, United Kingdom.
Arteriosclerosis. 1989 Jan-Feb;9(1 Suppl):I39-42.
Low density lipoprotein (LDL) receptor deficiency, which causes homozygous familial hypercholesterolemia (FH), is accompanied by a gross disturbance in the metabolism of apolipoprotein (apo) B-containing lipoproteins. Not only is plasma LDL increased, but also the less dense lipoproteins (of very low and intermediate density) accumulate to a similar extent. Only the largest triglyceride-rich subfraction of very low density lipoprotein (VLDL) is not affected. The metabolic disturbance is characterized by oversynthesis of apo B and a defect in its clearance along the length of the delipidation cascade from VLDL to LDL. This phenomenon leads to delayed transit of particles through the system, extending the residence time of the B protein in the plasma by three- to fourfold. Receptor deficiency, therefore, results in accumulation of a number of lipoprotein species that have been implicated in the pathogenesis of atherosclerosis.
低密度脂蛋白（LDL）受体缺乏会导致纯合子家族性高胆固醇血症（FH），同时伴有含载脂蛋白（apo）B的脂蛋白代谢严重紊乱。不仅血浆LDL增加，而且密度较低的脂蛋白（极低密度和中间密度）也会以类似程度积聚。只有最大的富含甘油三酯的极低密度脂蛋白（VLDL）亚组分不受影响。这种代谢紊乱的特征是apo B过度合成以及从VLDL到LDL的脱脂级联过程中其清除存在缺陷。这种现象导致颗粒在系统中的转运延迟，使B蛋白在血浆中的停留时间延长三到四倍。因此，受体缺乏会导致多种脂蛋白积聚，这些脂蛋白与动脉粥样硬化的发病机制有关。
