Work on gene therapy is showing significant progress for restoring muscle strength and prolonging lives in dogs with a previously incurable, inherited neuromuscular disease. UW Medicine Institute for Stem Cell and Regenerative Medicine scientists are leading the multi-institutional research effort.
The disease arises from a mutation in genes that normally make a protein, called myotubularin, essential for proper muscle function. Puppies with this naturally occurring mutation exhibit several features of babies with the same defective gene. The rare disorder, called myotubular myopathy, or MTM, affects only males. It causes fatal muscle wasting. Both dogs and boys with the disease typically succumb in early life due to breathing difficulties.
For decades, researchers have struggled to find suitable treatments for genetic muscle diseases like this one. Four collaborating research groups in the United States and France found a way to safely replace the disease-causing MTM gene with a healthy gene throughout the entire …