| First Author | Phelps SF | Year | 1995 |
| Journal | Hum Mol Genet | Volume | 4 |
| Issue | 8 | Pages | 1251-8 |
| PubMed ID | 7581361 | Mgi Jnum | J:27471 |
| Mgi Id | MGI:74952 | Doi | 10.1093/hmg/4.8.1251 |
| Citation | Phelps SF, et al. (1995) Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. Hum Mol Genet 4(8):1251-8 |
| abstractText | Duchenne and Becker muscular dystrophy are caused by defects in the dystrophin gene, and are candidates for treatment by gene therapy. We have shown previously that overexpression of a full-length dystrophin cDNA prevents the development of dystrophic symptoms in mdx mice. We show here that this functional correction can be achieved by expressing the full-length muscle isoform at a lower level than is present in control animals. Gene therapy for DMD may necessitate the use of truncated dystrophin mini-genes to accommodate the limited cloning capacity of current-generation viral delivery vectors. We have constructed both murine and human mini-genes deleted for exons 17-48, and have demonstrated that expression of either mini-gene can almost completely prevent the development of dystrophic symptoms in transgenic mdx mice. These results suggest that viral-mediated expression of moderate levels of a truncated dystrophin could be an effective treatment for DMD. |
