杜氏肌营养不良症研究进展：从分子机制到治疗策略

doi:10.16288/j.yczz.26-090

遗传 ›› 2026, Vol. 48 ›› Issue (10): 961-972.doi: 10.16288/j.yczz.26-090

杜氏肌营养不良症研究进展：从分子机制到治疗策略

李思远¹(), 李昱²(), 耿婧薇¹, 周子豪³, 张佳丽³, 宋金东¹(), 韩金祥¹()

¹ 山东第一医科大学生物医学科学学院，济南 250117
² 山东省职业卫生与职业病防治研究院，济南 250002
³ 山东第一医科大学第一附属医院病理科，济南 250014

收稿日期:2026-05-14 修回日期:2026-07-02 出版日期:2026-10-20 发布日期:2026-08-17
通讯作者: 韩金祥，博士，研究员，研究方向：罕见病发病机制及防治。E-mail: jxhan9888@aliyun.com;
宋金东，博士，助理研究员，研究方向：DMD核酸药物研发。E-mail: songnuro@163.com
作者简介:李思远，硕士研究生，专业方向：生物化学与分子生物学。E-mail: lsyuan2024@163.com
李昱，博士，副教授，研究方向：罕少见病流行病学。E-mail: liyu20120911@163.com
第一联系人：
李思远和李昱为并列第一作者。
基金资助:
山东省自然科学基金面上项目(ZR2023MH303)

Progress on Duchenne muscular dystrophy: from molecular mechanisms to therapeutic strategies

Siyuan Li¹(), Yu Li²(), Jingwei Geng¹, Zihao Zhou³, Jiali Zhang³, Jindong Song¹(), Jinxiang Han¹()

¹ Biomedical Sciences College, Shandong First Medical University, Jinan 250117, China
² Shandong Academy of Occupational Health and Occupational Medicine, Jinan 250002, China
³ Department of Pathology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan 250014, China

Received:2026-05-14 Revised:2026-07-02 Published:2026-10-20 Online:2026-08-17
Supported by:
Natural Science Foundation of Shandong Province(ZR2023MH303)

摘要/Abstract

摘要：

杜氏肌营养不良症(Duchenne muscular dystrophy, DMD)是最常见的致死性儿童神经肌肉遗传病，其发病源于抗肌萎缩蛋白(dystrophin)编码基因突变，导致肌膜稳定性受损，进而引发进行性肌肉萎缩与多器官功能衰竭。本文系统梳理了DMD的临床诊断体系、分子病理机制及前沿治疗策略，聚焦基因治疗领域的突破性进展，包括外显子跳跃、基因替代及基因组编辑等疗法的作用机制、临床证据及技术瓶颈，并结合最新研究成果展望了未来发展方向，以期为DMD的基础研究与临床转化提供全面参考。

关键词: 杜氏肌营养不良症, 抗肌萎缩蛋白, 基因治疗, 外显子跳跃

Abstract:

Duchenne muscular dystrophy (DMD) is the most common lethal neuromuscular genetic disorder in children. It is caused by mutations in the DMD gene that abolish the expression of dystrophin, a protein essential for maintaining sarcolemmal integrity during muscle contraction. Its loss renders muscle fibers susceptible to contraction-induced injury, leading to progressive muscle degeneration and, ultimately, fatal cardiac and respiratory failure. In this review, we summarize the diagnostic framework, molecular pathogenesis, and current therapeutic strategies of DMD, with particular emphasis on the recent advances in gene therapy—namely the mechanisms, clinical evidence, and technical challenges of exon skipping, gene replacement, and genome editing. Drawing on the latest findings, we further outline the major challenges and future directions of the field, aiming to provide a comprehensive reference for both basic research and clinical translation.

Key words: Duchenne muscular dystrophy, dystrophin, gene therapy, exon skipping

李思远, 李昱, 耿婧薇, 周子豪, 张佳丽, 宋金东, 韩金祥. 杜氏肌营养不良症研究进展：从分子机制到治疗策略[J]. 遗传, 2026, 48(10): 961-972.

Siyuan Li, Yu Li, Jingwei Geng, Zihao Zhou, Jiali Zhang, Jindong Song, Jinxiang Han. Progress on Duchenne muscular dystrophy: from molecular mechanisms to therapeutic strategies[J]. Hereditas(Beijing), 2026, 48(10): 961-972.

图/表 2

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药物名称	修饰方式	代替名	靶点	公司	给药途径	获批时间
Eteplirsen	PMO	AVI-4658/SRP-4051	51号外显子	Sarepta Therapeutics	静脉	2016年
Golodirsen	PMO	SRP-4053	53号外显子	Sarepta Therapeutics	静脉	2019年
Casimersen	PMO	SRP-4045	45号外显子	Sarepta Therapeutics	静脉	2021年
Viltolarsen (Viltepso)	PMO	NS-065/NCNP-01	53号外显子	Nippon Shinyaku	静脉	2020年

杜氏肌营养不良症研究进展：从分子机制到治疗策略

Progress on Duchenne muscular dystrophy: from molecular mechanisms to therapeutic strategies

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