MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford UK.
Exp Physiol. 2011 Nov;96(11):1101-13. doi: 10.1113/expphysiol.2010.053025. Epub 2011 Jul 31.
Duchenne muscular dystrophy is a devastating muscular dystrophy of childhood. Mutations in the dystrophin gene destroy the link between the internal muscle filaments and the extracellular matrix, resulting in severe muscle weakness and progressive muscle wasting. There is currently no cure and, whilst palliative treatment has improved, affected boys are normally confined to a wheelchair by 12 years of age and die from respiratory or cardiac complications in their twenties or thirties. Therapies currently being developed include mutation-specific treatments, DNA- and cell-based therapies, and drugs which aim to modulate cellular pathways or gene expression. This review aims to provide an overview of the different therapeutic approaches aimed at reconstructing the dystrophin-associated protein complex, including restoration of dystrophin expression and upregulation of the functional homologue, utrophin.
杜氏肌营养不良症是一种严重的儿童期肌肉营养不良症。肌营养不良蛋白基因突变破坏了内部肌丝和细胞外基质之间的连接，导致严重的肌肉无力和进行性肌肉萎缩。目前尚无治愈方法，虽然姑息性治疗有所改善，但受影响的男孩通常在 12 岁时就只能坐轮椅，并且在二十几岁或三十几岁时因呼吸或心脏并发症而死亡。目前正在开发的治疗方法包括针对特定突变的治疗、基于 DNA 和细胞的治疗，以及旨在调节细胞途径或基因表达的药物。本综述旨在概述旨在重建与肌营养不良蛋白相关的蛋白复合物的不同治疗方法，包括恢复肌营养不良蛋白的表达和上调功能同源物，即肌联蛋白。
