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载脂蛋白E变异体的影响:天然存在的变异体与临床特征综述

Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.

作者信息

Matsunaga Akira, Saito Takao

机构信息

General Medical Research Center, Faculty of Medicine, Fukuoka University.

Sanko Clinic.

出版信息

J Atheroscler Thromb. 2025 Mar 1;32(3):281-303. doi: 10.5551/jat.65393. Epub 2025 Jan 8.

Abstract

Apolipoprotein E (apoE) is a key apoprotein in lipid transport and is susceptible to genetic mutations. ApoE variants have been studied for four decades and more than a hundred of them have been reported. This paper presents an up-to-date review of the function and structure of apoE in lipid metabolism, the E2, E3, and E4 isoforms, the APOE gene, and various pathologies, such as familial type III hyperlipidemia and lipoprotein glomerulopathy, caused by apoE variants. Alzheimer's disease was barely mentioned in this paper. But this review should help researchers obtain a comprehensive overview of human apoE in lipid metabolism.

摘要

载脂蛋白E(apoE)是脂质转运中的关键载脂蛋白,易发生基因突变。对apoE变体的研究已有四十年,已报道了一百多种。本文对apoE在脂质代谢中的功能和结构、E2、E3和E4亚型、APOE基因以及由apoE变体引起的各种病理情况,如家族性III型高脂血症和脂蛋白肾小球病进行了最新综述。本文几乎未提及阿尔茨海默病。但这篇综述应有助于研究人员全面了解人类apoE在脂质代谢中的情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70c1/11883201/889fa5bc12e7/32_65393_1.jpg

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