van Deutekom Judith C T, van Ommen Gert-Jan B
Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands.
Nat Rev Genet. 2003 Oct;4(10):774-83. doi: 10.1038/nrg1180.
Since the initial characterization of the genetic defect for Duchenne muscular dystrophy, much effort has been expended in attempts to develop a therapy for this devastating childhood disease. Gene therapy was the obvious answer but, initially, the dystrophin gene and its product seemed too large and complex for this approach. However, our increasing knowledge of the organization of the gene and the role of dystrophin in muscle function has indicated ways to manipulate them both. Gene therapy for Duchenne muscular dystrophy now seems to be in reach.
自从对杜兴氏肌肉营养不良症的基因缺陷进行首次特征描述以来，人们付出了巨大努力来尝试开发针对这种毁灭性儿童疾病的治疗方法。基因治疗是显而易见的答案，但最初，肌营养不良蛋白基因及其产物对于这种方法来说似乎太大且太复杂。然而，我们对该基因组织以及肌营养不良蛋白在肌肉功能中的作用的了解不断增加，这指明了操纵它们两者的方法。现在，针对杜兴氏肌肉营养不良症的基因治疗似乎已触手可及。
