Mendell Jerry R, Rodino-Klapac Louise R, Malik Vinod
Center for Gene Therapy, Nationwide Children's Hospital, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA.
J Child Neurol. 2010 Sep;25(9):1145-8. doi: 10.1177/0883073810371005. Epub 2010 May 24.
Since the discovery of the gene for Duchenne muscular dystrophy more than 20 years ago, scientists have worked to apply molecular principles for restoration of the dystrophin protein and correction of the underlying physiologic defect that predisposes muscle fibers to injury. Recent studies provide realistic hope that molecular therapies may help patients who have this disorder. At present, only corticosteroids can improve walking ability and increase quality of life for boys with this disease. The results are modest and encumbered by side effects. The authors review 3 molecular therapeutic approaches that have been introduced into the clinic: (1) gene replacement therapy, (2) mutation suppression, and (3) exon skipping.
自20多年前发现杜氏肌营养不良症的基因以来，科学家们一直致力于应用分子原理来恢复肌营养不良蛋白，并纠正导致肌纤维易受损伤的潜在生理缺陷。最近的研究提供了切实的希望，即分子疗法可能有助于患有这种疾病的患者。目前，只有皮质类固醇可以改善患有这种疾病男孩的行走能力并提高生活质量。其效果有限且伴有副作用。作者回顾了已引入临床的三种分子治疗方法：（1）基因替代疗法，（2）突变抑制，以及（3）外显子跳跃。
