I had an appointment with my neurologist recently and he was very excited about some recent developments in France concerning gene splicing for muscle conditions. I have Myotonia Congenita and he reckoned that if the current research is successful then it could have a massive impact on people like me, that is, anyone with a genetic muscle mutation!
"exciting advances have already been made in one disorder, myotonic dystrophy-1 (DM-1). In a mouse model of DM-1, a morpholino antisense oligonucleuotide targeting the 3' splice site of CLCN1 exon 7a repaired the RNA splicing defect by promoting the production of full-length chloride channel transcripts. Abnormal chloride conductance was restored, and myotonia was abolished. Similar strategies hold potential for DM-2. The era of molecularly-based treatments is about to begin".
Neurotherapeutics. 2008 Oct;5(4):607-12.
Treatment of neuromuscular channelopathies: current concepts and future prospects.
Cleland JC, Griggs RC.
Department of Neurology, Waikato Hospital, Hamilton, New Zealand. clelandj@waikatodhb.govt.nz