关键词:

杜氏肌营养不良症, 抗肌萎缩蛋白, 基因治疗, 外显子跳跃疗法

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 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