Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications.

IF 3.5 2区 医学 Q2 GENETICS & HEREDITY Journal of Medical Genetics Pub Date : 2024-10-23 DOI:10.1136/jmg-2024-110045
Yanning Wei, Yuanyuan Jiang, Yufei Lu, Qiping Hu
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Abstract

Duchenne muscular dystrophy (DMD) is a commonly encountered genetic ailment marked by loss-of-function mutations in the Dystrophin gene, ultimately resulting in progressive debilitation of skeletal muscle. The investigation into the pathogenesis of DMD has increasingly converged on the role of histone modifications within the broader context of epigenetic regulation. These modifications, including histone acetylation, methylation and phosphorylation, are catalysed by specific enzymes and play a critical role in gene expression. This article provides an overview of the histone modifications occurring in DMD and analyses the research progress and potential of different types of histone modifications in DMD due to changes in cellular signalling for muscle regeneration, to provide new insights into diagnostic and therapeutic options for DMD.

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杜兴氏肌肉萎缩症的组蛋白修饰:发病机理和治疗意义。
杜兴氏肌肉萎缩症(DMD)是一种常见的遗传性疾病,其特点是Dystrophin基因功能缺失突变,最终导致骨骼肌进行性衰弱。对 DMD 发病机制的研究越来越多地集中在组蛋白修饰在更广泛的表观遗传调控中的作用上。这些修饰包括组蛋白乙酰化、甲基化和磷酸化,由特定的酶催化,在基因表达中起着至关重要的作用。本文概述了发生在 DMD 中的组蛋白修饰,分析了不同类型的组蛋白修饰在 DMD 中的研究进展和潜力,这些修饰是由于肌肉再生的细胞信号发生变化所致,从而为 DMD 的诊断和治疗方案提供新的见解。
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来源期刊
Journal of Medical Genetics
Journal of Medical Genetics 医学-遗传学
CiteScore
7.60
自引率
2.50%
发文量
92
审稿时长
4-8 weeks
期刊介绍: Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.
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