额颞叶痴呆MAPT基因的研究进展

Recent advance of MAPT gene in frontotemporal dementia

额颞叶痴呆是一种隐匿起病、进行性的神经变性性疾病,是仅次于阿尔茨海默病的第二大常见早发型痴呆类型,具有高度遗传异质性。近年来,额颞叶痴呆的基因研究正在如火如荼进行,目前已证实7种单基因突变可导致额颞叶痴呆。其中MAPT基因是最早被发现与额颞叶痴呆有关的致病基因,也是最主要最常见的一种致病基因。本文将就MAPT基因的结构、功能及其突变类型、动物模型、未来治疗方向在额颞叶痴呆中的研究现状进行综述。

Frontotemporal dementia （FTD） is an insidious onset, progressive neurodegenerative disease and is the second most common young-onset dementia after Alzheimer’s disease （AD）, with genetic heterogeneity. In recent years, genetic research in FTD is gaining momentum. Seven single causative genes have been discovered, whose mutations could lead to FTD. Among these, microtubule associated protein tau （MAPT） was the first gene to be discovered, which is the most important and the most common causative gene. This article introduced the structure, function, mutation types, animal models and potential therapeutic strategies of MAPT on FTD.