Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.

IF 4 3区 医学 Q2 CELL BIOLOGY
Disease Models & Mechanisms Pub Date : 2024-10-01 Epub Date: 2024-11-06 DOI:10.1242/dmm.050720
Andrew R Findlay
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引用次数: 0

Abstract

Treatments for disabling and life-threatening hereditary muscle disorders are finally close to becoming a reality. Research has thus far focused primarily on recessive forms of muscle disease. The gene replacement strategies that are commonly employed for recessive, loss-of-function disorders are not readily translatable to most dominant myopathies owing to the presence of a normal chromosome in each nucleus, hindering the development of novel treatments for these dominant disorders. This is largely due to their complex, heterogeneous disease mechanisms that require unique therapeutic approaches. However, as viral and RNA interference-based therapies enter clinical use, key tools are now in place to develop treatments for dominantly inherited disorders of muscle. This article will review what is known about dominantly inherited disorders of muscle, specifically their genetic basis, how mutations lead to disease, and the pathomechanistic implications for therapeutic approaches.

显性遗传性肌肉疾病:了解其复杂性并探索治疗方法。
治疗致残和危及生命的遗传性肌肉疾病终于即将成为现实。迄今为止,研究主要集中于隐性肌肉疾病。由于每个细胞核中都有一条正常染色体,因此通常用于隐性、功能缺失性疾病的基因替代策略并不能轻易应用于大多数显性肌病,这阻碍了针对这些显性疾病的新型疗法的开发。这在很大程度上是由于它们的疾病机制复杂多样,需要独特的治疗方法。然而,随着基于病毒和 RNA 干扰的疗法进入临床应用,开发显性遗传性肌肉疾病治疗方法的关键工具已经到位。本文将回顾人们对显性遗传性肌肉疾病的了解,特别是它们的遗传基础、突变如何导致疾病以及对治疗方法的病理机制影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Disease Models & Mechanisms
Disease Models & Mechanisms 医学-病理学
CiteScore
6.60
自引率
7.00%
发文量
203
审稿时长
6-12 weeks
期刊介绍: Disease Models & Mechanisms (DMM) is an online Open Access journal focusing on the use of model systems to better understand, diagnose and treat human disease.
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