DMD tagged posts

Members of the UT Southwestern team whose research successfully halted progression of a form of muscular dystrophy in mice included (l-r) Dr. Chengzu Long, Dr. Eric Olson, Dr. Rhonda Bassel-Duby, Dr. Leonela Amoasii, John Shelton, and Alex Mireault. Credit: UT Southwestern Medical Center

Using a new gene-editing technique, UT Southwestern Medical Center scientists stopped progression of Duchenne muscular dystrophy (DMD) in young mice. If efficiently and safely scaled up in DMD patients, this technique could lead to one of the first successful genome editing Rx’s.

DMD, the most common and severe form of muscular dystrophy among boys, is characterized by progressive muscle degeneration and weakness. It is caused by mutations in the X-linked DMD gene that encodes the protein dystrophin...

The dystrophin protein connects the cytoskeleton of muscle fibers with its N-terminal actin-binding domain and the extra-cellular matrix via a cysteine-rich C-terminal domain that binds dystroglycan, which in turn is bound to laminin 2. Between these two functional domain lies a large central domain that consists of 24 spectrin like repeats.

Human clinical trials are next step. Muscular dystrophy, which affects approximately 250,000 people in the US, occurs when damaged muscle tissue is replaced with fibrous, fatty or bony tissue and loses function. For years, scientists have searched for a way to successfully treat the most common form of the disease, Duchenne Muscular Dystrophy (DMD), which primarily affects boys...