The series, “This Month in Muscular Dystrophy,” is an opportunity to hear authors of recent publications discuss how their work improves understanding of these diseases, and what it might mean for treatment.
The first two podcasts, posted in April and May, featured the work of two MDA-funded researchers at Nationwide, Jerry Mendell and Brian Kaspar. Mendell discussed his latest work on gene therapy for muscular dystrophy and Kaspar spoke about his work on gene therapy for spinal muscular atrophy (SMA).
The third podcast, to be posted in June, will feature Kate Bushby, a neuromuscular disease researcher at Newcastle University in England, who also is a former MDA grantee. She will discuss standards of care in Duchenne muscular dystrophy.
“We have a couple of goals with these podcasts,” said series host Kevin Flanigan, a physician at the Nationwide neuromuscular disease clinic. “First is for education of patients and their families. Many of them are interested in knowing where very recent work stands.”
The second goal, Flanigan said, is to provide information for primary care physicians, pediatricians and other medical personnel who are often asked about neuromuscular disease, yet do not have access to the latest literature.
Flanigan says he plans to invite researchers from all over the globe to participate and, despite the series title, discussions will cover the entire field of neuromuscular disease research, not just muscular dystrophy.
DMD and SMA
In the first podcast, Mendell, who is co-director of the MDA clinic at Nationwide, discussed his recent investigation into using a gene for the protein follistatin to increase muscle size and strength. The findings were published in Science Translational Medicine in November 2009. (See “Follistatin Genes Strengthen Muscles in Monkeys.”)
Mendell and his team discovered that the naturally-occurring follistatin protein produced a marked and durable increase in muscle size and strength, with no adverse effects, when injected into the leg muscles of monkeys. Follistatin works by blocking the action of myostatin, another naturally-occurring protein that retards muscle growth.
The findings have implications for people with muscle-wasting diseases like muscular dystrophy, as well as those with muscle damage due to other illnesses, injury or aging.
The second podcast addressed a potentially even more significant finding in gene therapy for SMA. Brian Kaspar and his team at Nationwide were able to restore near-normal muscle function in mice that had an SMA-like condition by injecting them at birth with a protein that is deficient in this disease. The findings were published in Nature Biotechnology on February 28, 2010. (See “Gene Therapy Rescues Mice with SMA.”)
Kaspar’s research found that, if the protein injections were done a day or two after birth, the mice’s functioning was restored, but at just ten days after birth, the treatment didn’t work. The findings point out the potential need for newborn screening for SMA, in order to begin treatment as soon as possible.
Although both of the therapies discussed in the podcasts have potential for success in neuromuscular disease, more studies will need to be done before they are approved for human use.
To download or listen to the podcasts, go to www.nationwidechildrens.org/muscular-dystrophy-podcast.
For more information, links to abstracts of the journal articles, as well as links to the researchers’ lab pages, please visit the Nationwide clinic’s website.