Researchers strike a blow against muscular dystrophy

One of the most disturbing forms of muscular dystrophy is a genetic disorder that strikes one out of every 3,500 newborn boys. Called Duchenne muscular dystrophy, the patients’ bodies cannot produce a protein necessary for the structural support of muscle.

This disease is generally discovered by age 4; by puberty, most boys are using a wheelchair. The majority of victims die in their 20s, although some survive until their early 30s. The disease strikes muscles in the heart and pulmonary system and death usually comes from heart or respiratory failure.

To find a possible cure, scientists have bred mice that lack the gene necessary to produce the protein. On Sept. 16, UW researchers announced a dramatic breakthrough—they were able to insert the missing gene into these defective mice and reverse the effects of Duchenne muscular dystrophy.

“Our results indicate that gene therapy could be used not only to halt or prevent this disease, but also to restore normal muscle function in older patients,” says UW Neurology Professor Jeffrey S. Chamberlain. He is the senior author of the paper describing the results, which was published in the Proceedings of the National Academy of Sciences.

The UW research team found that the full gene could be delivered to muscles of young and old mice, well after severe muscle damage had struck the tissue. They also found that normal muscle function was restored to a level that directly correlated with the amount of the gene that was inserted into the muscle.

“In future research, we hope to develop better methods to deliver the gene to all the muscles of the body, as currently we are limited to treating relatively small muscles. We believe these results also support the need to move forward with human clinical trials to assess the safety of these methods in patients,” Chamberlain says.

The research was funded by grants from the National Institutes of Health, the Muscular Dystrophy Association and the Apex Foundation, a family foundation established by Bruce and Jolene McCaw.