Sf. Phelps et al., EXPRESSION OF FULL-LENGTH AND TRUNCATED DYSTROPHIN MINI-GENES IN TRANSGENIC MDX MICE, Human molecular genetics, 4(8), 1995, pp. 1251-1258
Duchenne and Becker muscular dystrophy are caused by defects in the dy
strophin gene, and are candidates for treatment by gene therapy, We ha
ve shown previously that overexpression of a full-length dystrophin cD
NA prevents the development of dystrophic symptoms in mdx mice, We sho
w here that this functional correction can be achieved by expressing t
he full-length muscle isoform at a lower level than is present in cont
rol 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 mu
rine and human mini-genes deleted for exons 17-48, and have demonstrat
ed that expression of either mini-gene can almost completely prevent t
he development of dystrophic symptoms in transgenic mdx mice, These re
sults suggest that viral-mediated expression of moderate levels of a t
runcated dystrophin could be an effective treatment for DMD.