ApoE基因功能及相关疾病模型的研究进展

doi:10.3969/j.issn.1674-5817.2015.03.016

摘要/Abstract

摘要： 载脂蛋白E(apolipoprotein E,APOE)基因位于人类第19号染色体上,全长3.7 kb,表达产物载脂蛋白是一种富含精氨酸的碱性蛋白。apoE蛋白参与脂质的运输、储存及排泄,同时也参与神经系统的发育和损伤后的修复。目前人类高发的动脉粥样硬化和阿尔茨海默病均与apoE蛋白参与的脂代谢调节异常有关,体外及动物实验研究表明,APOE基因的多态性与冠心病、高脂血症、脑梗塞的发生相关。研究制作APOE转基因及基因敲除或突变的相关动物模型,探明其脂代谢过程,可以更好地了解上述疾病的发病机制,寻找相关疾病的潜在治疗靶点,从而为治疗人类疾病提供更加可行有效的方案。本文总结了人类APOE基因型与apoE蛋白相关的几种疾病发生机制,并对体外研究疾病发展过程的动物模型进行了综述。

关键词: 载脂蛋白E(apoE), 疾病模型, 转基因动物, 基因敲除

Abstract: Apolipoprotein E gene (APOE) is located on human chromosome 19, with 3.7 kb length. Its expression production is an alkaline protein containing arginine. ApoE can take part in lipid transport, storage and excretion, as well as nervous system development and injury repair process. High incidence of atherosclerosis and Alzheimer’s disease occurred in human are related with lipid metabolism dysregulation. Researches on animals in vitro showed that the polymorphism of ApoE is related to coronary heart disease, hyperlipidemia and infarction. Transgenic and gene knock out or mutation animal models can help to know more about the process of lipid metabolism, understand the mechanism of occurrence and development process , and find the potential therapeutic targets of related illnesses. Then more effective solutions for the treatment of human diseases can be provided. This essay briefly summaries the mechanism of some diseases related to APOE genotype and apoE protein, and also researches on the development of these diseases in vitro in animal models.

Key words: Apolipoprotein E (apoE), Diseases models, Transgenic animals, Gene knockout

中图分类号:

Q95-33

姜伟华, 李善刚, 陈学进. ApoE基因功能及相关疾病模型的研究进展[J]. 实验动物与比较医学, 2015, 35(3): 249-257.

JIANG Wei-hua, LI Shan-gang, CHEN Xue-jin. Advances on Research of APOE Gene Function and Related Diseases Models[J]. Laboratory Animal and Comparative Medicine, 2015, 35(3): 249-257.

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