The Myotubular Trust is delighted to formally announce the detail of our two research grants for 2014. Both of these projects offer very exciting prospects for potential therapeutic strategies for myotubular and centronuclear myopathy.

The first is a three-year grant of £132,000 and will be led by Dr Jocelyn Laporte, at the world-renowned laboratory IGBMC where, under his leadership, the X-linked myotubular myopathy (mtm1) gene was discovered in 1996.

Dr Laporte and his team, in collaboration with the Institute of Myology in Paris, in a truly ground breaking development, have for the very first time in the history of this condition, established a strong genetic link between two of the genes that cause centronuclear/myotubular myopathy. Even more promising for our community, Dr Laporte and his collaborators have discovered that by reducing levels of the protein controlled by one of these genes – dynamin 2 (DNM2) – the symptoms of the muscle and respiratory weakness caused by the gene mtm1 can be fully rescued. The three years funding by the Myotubular Trust will allow the team to target DNM2 as an innovative therapeutic strategy for X-linked myotubular myopathy and, very importantly to the Trust, the other forms of centronuclear myopathy too. To read more see ‘Lay Summary Myotubular Trust Grant to Dr Jocelyn Laporte and team, IGBMC, France 2014’ 

The second of our grants for 2014 is a one-year grant of £55,500 to Dr James Dowling at the Hospital for Sick Children, Toronto, Canada. Dr Dowling’s grant is equally exciting and hopeful.

Dr Dowling has proven that a loss of mtm1 (caused by X-linked myotubular myopathy) causes an excess of a phosphoinositide called PI(3)P. He and his team also have already proven that reducing PI(3)P can remove all muscle problems and establish a normal life span. With the support of Myotubular Trust funding, they will now:

1) verify this across all available models of mtm1 and

2) carry out a large scale screening of chemical libraries (collections of drugs that already exist) to find any that would have the effect of reducing PI(3)P in humans.

This research opens up a truly exciting avenue for a novel potential treatment for myotubular myopathy. You can read the ‘Lay Summary Myotubular Trust’s Grant to Dr James Dowling’, Hospital for Sick Children, Toronto, Canada, 2014′ here.