Advancing toward a cure
Muscular dystrophies are particularly debilitating diseases with devastating consequences. Tens of thousands of people are afflicted nationwide and substantially more globally. Most cases result from structural abnormalities in the multi-protein dystrophin-glycoprotein complex, which stabilizes muscle cells during contraction. If the complex is functionally compromised, as with many forms of muscular dystrophy, the muscle becomes injured, even with normal use, and begins to degenerate.
The most common form is Duchenne muscular dystrophy (DMD), which results from genetic mutations within the dystrophin gene itself. Replacing the mutated gene with a normal or “wild-type” copy would therefore correct the problem and restore muscle structure and function. WCMB researchers are trying to solve this problem using two approaches: gene and stem cell therapies. Both require the genetic manipulation of muscle cells and both have rescued animal models of DMD (see video of Dr. Jeff Chamberlain’s research).
This exciting technology is currently being used to address other types of muscular dystrophy in addition to DMD. It is also being used to develop therapeutics for the muscle wasting that occurs with aging (a.k.a. sarcopenia), cancer (a.k.a. cachexia) and with chronic infection and could additionally be used to restore injured muscle.
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