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Review Article

儿童早衰症的分子机制、病理生理学和治疗方法综述

卷 21, 期 3, 2021

发表于: 03 March, 2021

页: [216 - 229] 页: 14

弟呕挨: 10.2174/1566523221666210303100805

价格: $65

摘要

Lamin A/C编码的LMNA基因是维持核结构的重要组成部分。椎板蛋白A/C的突变导致一组遗传性疾病，称为椎板病。在人体中，已经确认的LMNA基因中有几个突变。它可以影响不同的器官或组织，也可以是全身性的，引起不同的疾病。在这篇综述中，我们主要集中在最严重的椎板病之一，Hutchinson-Gilford早衰综合征(HGPS)。HGPS是一种非常罕见的、致命的、异染色体的、不合时宜的椎板病，由LMNA基因的异常剪接和一种称为progerin的异常蛋白的产生引起。在这里，我们还介绍了目前在分子机制、病理生理学、可用的治疗和未来的方法对这种致命疾病的现有数据。由于progerin的产生，一种异常的蛋白质导致核结构异常、DNA修复缺陷、端粒缩短和基因调控障碍，最终导致生命早期的衰老。现在有一些治疗这种疾病的方法可供选择，但对这种疾病的分子机制的正确理解将有助于开发一种更合适的治疗方法，使其成为一个新兴的研究领域。

关键词: 早衰症，早衰蛋白

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图形摘要

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