Duchenne muscular dystrophy (DMD) is an incurable progressive muscle wasting disorder presenting within the first few years of life. It arises from the absence of the protein dystrophin from muscle. Without medical intervention affected children become unable to walk beyond ~12 years.
SKIP-NMD is an EU FP7 funded collaborative grant involving 10 partners from Europe and the USA, whose aim is to restore dystrophin production in a subset of DMD boys. This will be achieved by developing a drug which ‘skips’ the mutations causing DMD, so as to restore dystrophin protein expression.
The dystrophin gene is made up of 79 protein coding regions called exons (numbered boxes). In this figure, exon 52 is deleted which disrupts the production of full length dystrophin resulting in DMD. Performing exon –skipping across exon 53, restores the protein reading frame to make a shorter form of dystrophin restoring some functionality by mimicking the milder type of the disease known as Becker muscular dystrophy.