Dr Jocelyn Laporte of Department of Translational Medecine and Neurogenetics, I.G.B.M.C. Strasbourg reports:
“Our team in Strasbourg is supported by Myotubular Trust since 2011 to identify genes linked to myotubular and centronuclear myopathies using the novel genome sequencing approach.
Thanks to this support, we could participate to an international collaborative study that culminated in the identification of mutations in Titin in patients presenting with centronuclear myopathy. Titin is the largest protein of the human body, and acts as a molecular spring during muscle contraction and relaxation.
Other families with centronuclear myopathy that have previously eluded genetic diagnosis may turn out to be linked to this same gene. Researchers can now use this finding to better establish diagnosis and understand how these myopathies occur. Moreover, Titin represents a novel target for therapeutic development for centronuclear myopathies.
Other forms of CNM still remain without a genetic diagnosis and research is ongoing in our team to identify the genetic causes.”