载脂蛋白B-100基因突变与脂蛋白代谢及动脉粥样硬化  

The effects of major apolipoprotein B-100 mutations on lipoprotein metabolism and atherosclerosis

作　　者：马百坤[1] 陈慧[2] 庄一义[1] 

机构地区：[1]南京军区南京总医院解放军临床医学检验中心,江苏南京210002 [2]江苏大学医学技术学院,江苏镇江212001

出　　处：《医学研究生学报》2005年第7期638-641,共4页Journal of Medical Postgraduates

摘　　要：载脂蛋白B100(apoB100)是低密度脂蛋白(LDL)的重要组分之一,对于维持LDL结构的完整及血清胆固醇水平的相对稳定起着重要的作用。apoB100及其结构上的变化在高血脂及动脉粥样硬化方面所起到的作用和影响非常巨大。目前apoB100的编码基因及蛋白质的部分结构已基本阐明,已发现了一些结构域和决定其主要生物功能的LDL受体结合部位中,能明显影响其结构与功能的基因突变点,即第3500氨基酸突变(R3500Q、R3500W)及第3531氨基酸突变(R3531C)。apoB100结构上的变异均不同程度地减低apoB100与LDL受体结合的能力,其中最为重要的变异是R3500Q,可直接导致个体高脂血症的发生。本文对apoB100基因突变所造成其结构上的变异及这种变异与高脂血症、动脉粥样硬化的关系进行了综述。Apolipoprotein B-100(apoB-100) is a key protein compound in plasma lipid metabolism. As a major component of LDL particles, apoB-100 controls the homeostasis of LDL cholesterol in plasma. ApoB-100 and its structural variants play an important role in the development of hyperlipidemia and atherosclerosis. Intensive research in the structure and biological functions of apoB-100 has led to the identification of its complete structure as well as the responsible binding sites. Some structural variants of the apoB-100 protein that directly affect its binding properties have been described. These are mutations leading to amino acid substitution at positions 3500(R3500Q and R3500W) and 3531 (R3531C ) that have been shown to decrease the binding affinity of apoB-100. However, only the former mutations have been demonstrated to cause hyperlipidemia. This review discussed the impact of apoB-100 and the effects of apoB-100′s structural variants on plasma lipid metabolism, development of hyperlipidemia and atherosclerosis.

关 键 词：载脂蛋白B-100 突变 高脂血症 动脉粥样硬化 

分 类 号：Q754[生物学—分子生物学]