再生医学杂志

Regenerative Potential of Stem Cells for Duchenne Muscular Dystrophy

Dario Siniscalco and Nataliia Sych

Regenerative Potential of Stem Cells for Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a childhood, severe, X-chromosome linked neuromuscular disorder, affecting 1:3500 male births. It is characterized by mutations in the dystrophin gene, leading to the alteration of the open reading frame and consequently to the loss of dystrophin protein synthesis. The muscular degeneration of muscle fibres causes progressive damage leading to death. Currently, there is no curative treatment for DMD [4], as this disorder can be considered an untreatable fatal disease. Novel therapeutical approaches have been proposed in the last years. Among them, gene replacement theory has gained substantial attention. Targeted exon-skipping through RNA to exclude specific sites of RNA splicing, or with antisense oligonucleotides can induce the restoring of the open reading frame and the production of a functional, even if smaller, dystrophin protein.