| First Author | Wells DJ | Year | 1992 |
| Journal | Hum Mol Genet | Volume | 1 |
| Issue | 1 | Pages | 35-40 |
| PubMed ID | 1301134 | Mgi Jnum | J:2092 |
| Mgi Id | MGI:50616 | Doi | 10.1093/hmg/1.1.35 |
| Citation | Wells DJ, et al. (1992) Human dystrophin expression corrects the myopathic phenotype in transgenic mdx mice. Hum Mol Genet 1(1):35-40 |
| abstractText | Duchenne and the less severe Becker form of muscular dystrophy (DMD,BMD) result from genetic deficiency in the level and/or activity of the protein dystrophin. The recent availability of cDNA based minigenes encoding recombinant dystrophin polypeptides has raised the possibility of somatic gene transfer as a therapeutic approach to treat dystrophin deficiency. In this respect, the mdx mouse provides a useful model of DMD exhibiting features characteristic of both the early myopathic and later fibrotic phases of the human disease. Using a mutated human cDNA, compatible in size with virus-based somatic gene transfer vectors, the pathophysiological consequences of restoring dystrophin expression have been examined in transgenic mdx mice. Transgene expression was correlated with a marked reduction of the skeletal myofibre necrosis and regeneration which is a major feature of the dystrophin-deficient phenotype in young mdx mice. The cDNA construct which is based on a very mild BMD phenotype thus encodes a highly functional dystrophin molecule whose reduced size renders it an attractive candidate for development as a therapeutic gene transfer reagent. |
