Virus Vector Cures Myotubular Myopathy

Researchers from Harvard Medical School, Washington University, and France have made a new development that can lead to a future cure for myotubular myopathy. Myotubular myopathy belongs to a group of genetic disease that are centronuclear myopathies which demonstrate an X-linked inheritance pattern which primary affect males.

Myotubular myopathy is caused by a mutation of the MTM1 gene which cause nuclei of muscle cells to develop and remain within the center of the muscle cell instead of the the nuclei developing at the end of muscle fibers. Assumptions are made that the MTM1 gene may affect muscular development since immature muscle fibers of healthy individuals have central nucleated muscle cells but eventually move toward the ends.

The researchers had developed an adeno-associated virus (AAV) to act as a vector and deliver a normal copy of the MTM1 gene to the entire musculature. The AAV was administered by an intravenous injection into ten week-old dogs that showed first signs of myotubular myopathy, and over time the signs of this disease had gone away resulting a the restoration of normal muscle strength and function.

Tremendous work was done by this group of researchers and is a large step in a possible cure for muscular genetic disease in humans.


https://www.omim.org/entry/310400?search=myotubular%20myopathy&highlight=myopathic%20myotubular%20myopathy
https://rarediseases.org/rare-diseases/x-linked-myotubular-myopathy/