Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, Tokyo, Japan.
Exp Cell Res. 2010 Nov 1;316(18):3087-92. doi: 10.1016/j.yexcr.2010.05.022. Epub 2010 May 24.
The molecular mechanisms of Duchenne muscular dystrophy (DMD) have been extensively investigated since the discovery of the dystrophin gene in 1986. Nonetheless, there is currently no effective treatment for DMD. Recent reports, however, indicate that adenoassociated viral (AAV) vector-mediated transfer of a functional dystrophin cDNA into the affected muscle is a promising strategy. In addition, antisense-mediated exon skipping technology has been emerging as another promising approach to restore dystrophin expression in DMD muscle. Ongoing clinical trials show restoration of dystrophin in DMD patients without serious side effects. Here, we summarize the recent progress in gene therapy, with an emphasis on exon skipping for DMD.
自 1986 年发现肌营养不良蛋白基因以来，人们对杜氏肌营养不良症（DMD）的分子机制进行了广泛的研究。尽管如此，目前尚无有效的 DMD 治疗方法。然而，最近的报告表明，腺相关病毒（AAV）载体介导的将功能性肌营养不良蛋白 cDNA 转移到受影响的肌肉中是一种很有前途的策略。此外，反义介导的外显子跳跃技术作为另一种有前途的方法，正在出现，以恢复 DMD 肌肉中的肌营养不良蛋白表达。正在进行的临床试验显示，DMD 患者的肌营养不良蛋白得到恢复，且没有严重的副作用。在这里，我们总结了基因治疗的最新进展，重点介绍了 DMD 的外显子跳跃。
