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Epigenetics
Review
Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications
  1. Yanning Wei1,2,
  2. Yuanyuan Jiang1,
  3. Yufei Lu1,
  4. Qiping Hu1,3
  1. 1Department of Cell Biology and Genetics, School of Basic Medical Sciences, Guangxi Medical University, Nanning, Guangxi, China
  2. 2Department of Biochemistry and Molecular Biology, School of Basic Medicine, Key Laboratory of Biological Molecular Medicine Research of Education, Guangxi Medical University, Nanning, Guangxi, China
  3. 3Key Laboratory of Longevity and Aging-related Diseases, Ministry of Education, Guangxi Medical University, Nanning, Guangxi, China
  1. Correspondence to Dr Qiping Hu; huqiping{at}gxmu.edu.cn; Dr Yufei Lu; lyff1002{at}126.com

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.

  • Gene Expression Regulation
  • Genetic Diseases, X-Linked
  • Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Drug Discovery
  • Phenomics

https://doi.org/10.1136/jmg-2024-110045

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    Footnotes

    • Contributors YW wrote the first draft of the manuscript and drafted the figures and tables and finalised the final version. YJ discussed the outline of the manuscript with YW and contributed to the charts’ interpretation. QH and YL provided comments and suggestions to the manuscript and discussed the outline of the figures. All authors have read and agreed to the published version of the manuscript.

    • Funding This study was funded by the central government guides local science and technology development fund projects (No. ZY22096021) and Guangxi Natural Science Foundation (No. 2024GXNSFAA999027 and 2018GXNSFDA050001).

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.