Duchenne muscular dystrophy: pathogenesis and promising therapies.

Xin Chen, Boya Liu, Zihui Gao, Mengyuan Chang, Yong Cai, Cheng Zhang, Weiran Yu, Qianqian Cao, Yuntian Shen, Xinlei Yao, Xiaoyang Chen, Hualin Sun

Journal: Journal of neurology 2023;270(8):3733-3749

PMID: 37258941

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Abstract

["Duchenne muscular dystrophy (DMD) is a severe, progressive, muscle-wasting disease, characterized by progressive deterioration of skeletal muscle that causes rapid loss of mobility. The failure in respiratory and cardiac muscles is the underlying cause of premature death in most patients with DMD. Mutations in the gene encoding dystrophin result in dystrophin deficiency, which is the underlying pathogenesis of DMD. Dystrophin-deficient myocytes are dysfunctional and vulnerable to injury, triggering a series of subsequent pathological changes. In this review, we detail the molecular mechanism of DMD, dystrophin deficiency-induced muscle cell damage (oxidative stress injury, dysregulated calcium homeostasis, and sarcolemma instability) and other cell damage and dysfunction (neuromuscular junction impairment and abnormal differentiation of muscle satellite). We also describe aberrant function of other cells and impaired muscle regeneration due to deterioration of the muscle microenvironment, and dystrophin deficiency-induced multiple organ dysfunction, while summarizing the recent advances in the treatment of DMD.",{"copyright":"\u00a9 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany."}]

Address: Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Nantong University, Nantong, 226001, Jiangsu, People's Republic of China.; Department of Neurology, Binhai County People's Hospital, Yancheng, 224500, Jiangsu, People's Republic of China.; Department of Neurology, Affiliated Hospital of Nantong University, Nantong, 226001, Jiangsu, People's Republic of China.; Department of Clinical Medicine, Medical College, Nantong University, Nantong, 226001, Jiangsu, People's Republic of China.; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Nantong University, Nantong, 226001, Jiangsu, People's Republic of China. [email protected].; Department of Ultrasound, Affiliated Hospital of Nantong University, Nantong, 226001, Jiangsu, People's Republic of China. [email protected].; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Nantong University, Nantong, 226001, Jiangsu, People's Republic of China. [email protected].; Research and Development Center for E-Learning, Ministry of Education, Beijing, 100816, People's Republic of China. [email protected].

DOI: 10.1007/s00415-023-11796-x

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MeSH Terms: Humans, Muscular Dystrophy, Duchenne, Dystrophin, Muscle, Skeletal, Mutation, Neuromuscular Junction