Establishment of treatment of Duchenne muscular dystrophy

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Duchenne muscular dystrophy (DMD) is a severe muscle wasting disease caused by mutation of the dystrophin gene. DMD patients usually die among the age of 20, but no treatment has been established. We have proposed that out-frame mutation identified in DMD can be corrected to in-frame by inducing exon skipping at the time of splicing. To confirm our proposal, we transfected oligonucleotide which is complementary to splicing enhancer sequence of exon 19 into cultured muscle cells, which was established from DMD case having exon 20 deletion. By this treatment, exon 19 skipping was induced and resulting dystrophin transcript re-gained translational reading frame. Remarkably dystrophin was stained in those transfected cells. This confirms that dystrophin negative cells are able to be converted to dystrophin positive and our proposal is right way to treat DMD.To expand our strategy, we are currently studying splicing enhancer sequence in other exons, dystrophin, splicing, splicing enhancer sequence, exon skipping, treatment