Lim Leland E, Rando Thomas A
Neurology Service at the Veterans Affairs Palo Alto Health Care System, CA, USA.
Nat Clin Pract Neurol. 2008 Mar;4(3):149-58. doi: 10.1038/ncpneuro0737. Epub 2008 Feb 12.
Since the identification of dystrophin as the protein product of the Duchenne and Becker muscular dystrophy locus, many different mutations, encompassing the entire spectrum of gene mutations ranging from point mutations to large deletions, have been found. These discoveries have led to the investigation of a variety of methods aimed at the treatment of muscular dystrophy, including strategies for gene replacement, gene correction, and modification of the gene product. The preferred approach in each case depends on the nature of the gene defect. In this Review, we focus on methods that have been developed for gene correction and for the modification of gene products. This mutation-focused approach offers the opportunity for 'personalized' gene therapy for muscular dystrophy and might also be a logical strategy for the treatment of other genetic disorders.
自从肌营养不良蛋白被鉴定为杜兴氏和贝克氏肌营养不良症基因座的蛋白质产物以来，人们发现了许多不同的突变，涵盖了从点突变到大片段缺失的全谱基因突变。这些发现促使人们研究各种治疗肌营养不良症的方法，包括基因替代、基因校正和基因产物修饰策略。每种情况下的首选方法取决于基因缺陷的性质。在本综述中，我们重点关注已开发的基因校正和基因产物修饰方法。这种以突变为重点的方法为肌营养不良症的“个性化”基因治疗提供了机会，也可能是治疗其他遗传疾病的合理策略。
