Identification of a chemical that can restore the production of dystrophin in the cells of a Duchene muscular dystrophy patient is reported this week in Nature Communications. These findings may be useful in developing a therapy for some mild forms of Duchenne muscular dystrophy.
In some mild forms of Duchenne muscular dystrophy a small amount of functional protein is produced via exon skipping. Masatoshi Hagiwara and colleagues previously screened a chemical library containing 100,000 chemicals and identified one compound that was associated with exon skipping. They now show that the compound can restore the production of dystophin in an individual patient’s cells.
Although, synthetic DNA molecules have been shown to induce a similar exon skipping of the dystrophin gene, the identification of the chemical may also aid in the treatment of some forms of Duchenne muscular dystrophy.