Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics and Neurology; The Ohio State University, Columbus, OH.
Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH.
Semin Pediatr Neurol. 2021 Apr;37:100877. doi: 10.1016/j.spen.2021.100877. Epub 2021 Feb 11.
Duchenne muscular dystrophy (DMD) is marked by pathogenic variants in the DMD gene, leading to reduced or absent dystrophin translation, muscle fiber destruction, loss of ambulation, cardiomyopathy, respiratory failure, and eventually death. Disease progression is slowed with use of prednisone or other corticosteroid agents. Gene replacement therapy, which is one of the focus points of this review, has emerged as the most promising potential treatment for DMD, though alternative RNA-based strategies have been employed for patients with specific pathogenic variants. While challenges remain, many of these novel therapeutic approaches hold promise for treating this devastating disease.
杜氏肌营养不良症(DMD)的特征是 DMD 基因的致病性变异,导致肌营养不良蛋白翻译减少或缺失,肌肉纤维破坏,丧失行动能力,心肌病变,呼吸衰竭,最终导致死亡。使用泼尼松或其他皮质类固醇药物可以减缓疾病进展。基因替代疗法是本综述的重点之一,已成为 DMD 最有前途的潜在治疗方法,尽管针对特定致病性变异的患者已经采用了替代 RNA 策略。尽管仍存在挑战,但这些新的治疗方法为治疗这种毁灭性疾病带来了希望。