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

Autor: Wei Y; Department of Cell Biology and Genetics, School of Basic Medical Sciences, Guangxi Medical University, Nanning, Guangxi, China.; Department of Biochemistry and Molecular Biology, School of Basic Medicine, Key Laboratory of Biological Molecular Medicine Research of Education, Guangxi Medical University, Nanning, Guangxi, China., Jiang Y; Department of Cell Biology and Genetics, School of Basic Medical Sciences, Guangxi Medical University, Nanning, Guangxi, China., Lu Y; Department of Cell Biology and Genetics, School of Basic Medical Sciences, Guangxi Medical University, Nanning, Guangxi, China huqiping@gxmu.edu.cn lyff1002@126.com., Hu Q; Department of Cell Biology and Genetics, School of Basic Medical Sciences, Guangxi Medical University, Nanning, Guangxi, China huqiping@gxmu.edu.cn lyff1002@126.com.; Key Laboratory of Longevity and Aging-related Diseases, Ministry of Education, Guangxi Medical University, Nanning, Guangxi, China.
Jazyk: angličtina
Zdroj: Journal of medical genetics [J Med Genet] 2024 Oct 23; Vol. 61 (11), pp. 1003-1010. Date of Electronic Publication: 2024 Oct 23.
DOI: 10.1136/jmg-2024-110045
Abstrakt: 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.
Competing Interests: Competing interests: None declared.
(© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze: MEDLINE