杜氏肌营养不良症治疗研究进展

Research progress of therapies of Duchenne muscular dystrophy

杜氏肌营养不良症(DMD)是由于DMD基因发生突变导致的X连锁隐性遗传病,目前尚无有效的治疗方法。随着对该病的发病机制和病理变化过程逐渐深入地认识,近年来研究者从多方面探索治疗该疾病的方法和效果,包括抑制炎症、调节钙水平、促进肌肉生长、抗纤维化等对症治疗药物,辅助训练设备,基因替代、外显子跳跃、基因编辑等基因治疗方案,以及干细胞治疗。本文综述了DMD治疗方法的最新研究进展。

Duchenne muscular dystrophy(DMD) is a kind of X-linked recessive hereditary disease caused by mutations of the dystrophin gene. There is no effective therapy method at present. In recent years, with the increasing knowledge of the mechanisms and pathologic process of the disease, researchers have conducted studies of DMD therapy method and the effectiveness. These studies include developing pharmaceutical therapies for reducing inflammation, regulating calcium levels, promoting muscle growth and anti-fibrosis, developing auxiliary equipment to train or improve the life quality of patients, developing gene therapy strategies for DMD gene replacement, exon-skipping and gene editing, and investigating stem cell therapy. This paper summarizes the latest progress of each therapy for DMD.