Dr Jocelyn Laporte. Since 2011, Myotubular Trust has supported Dr Jocelyn Laporte’s “High throughput gene sequencing to identify new genes that cause myotubular and centronuclear myopathies”.
Dr Jocelyn Laporte and his team in Strasbourg, France have recently discovered five Great Danes who are mimicking symptoms of a highly progressive autosomal recessive form of centronuclear myopathy (CNM), as observed in some patients with the human form of the condition.
This brings the total number to three naturally occurring canine models expressing three different mutations of the conditions known in the human form as myotubular and centronuclear myopathy.
Dr Laporte and his colleagues said “comparative studies of the three models will be an invaluable source of information regarding common features in distinct forms of centronuclear myopathy and will help to foster potential rescuing approaches.”
Please read the lay summary of the novel canine model for centronuclear myopathy as just described in the journal PLoS Genetics Bohm et al. “Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy“.
Dr Jocelyn Laporte said “my research colleagues and I feel this finding is very relevant in terms of any new and innovative therapy projects that are likely to be developed for this group of conditions, in addition to the projects which are already in the pipeline to treat x-linked myotubular myopathy.”
He continued “We are excited that comparative studies of the three models will be an invaluable source of information regarding common features in distinct forms of centronuclear myopathy and will help to foster potential rescuing approaches that will successfully improve muscle growth and strength. Potential therapies for centronuclear myopathy may include gene therapy, cell infusion or pharmalogical approaches.”