Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy

Myotubularins are active or dead phosphoinositides phosphatases defining a large protein family conserved through evolution and implicated in different neuromuscular diseases. Loss-of-function mutations in myotubularin (MTM1) cause the severe congenital myopathy called myotubular myopathy (or X-linked centronuclear myopathy) while mutations in the myotubularin-related protein MTMR2 cause Charcot-Marie-Tooth peripheral neuropathy (CMT4B1). Here we aimed to determine the functional specificity and redundancy of MTM1 and MTMR2, and to assess their abilities to compensate for a potential therapeutic strategy.

Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: M. Raess, B. Cowling, D. Bertazzi, C. Kretz, B. Rinaldi, P. Kessler, S. Friant, J. Laporte Source Type: research