Emery-Dreifuss Muscular Dystrophy (EDMD)

Comedian with EDMD Takes Sacramento by Storm

 What started out as an item on O'Connell's bucket list is now an almost nightly occurance: performing comedy on stage.

“So this woman comes up and tries to give me a dollar. I wanted to say, ‘Hey! Just because I’m in a wheelchair doesn’t mean I’m homeless!’”

Three-Protein Repair Cluster Identified

Scientists in the United States and Japan have identified a three-protein cluster that reseals damaged muscle-fiber membranes. The findings, published June 5, 2009, in the Journal of Biological Chemistry, could have implications for development of treatments for muscular dystrophies.




MD Research: Muscle-Repair Booster

In experiments in mice, Michael Rudnicki, an MDA grantee at the Sprott Center for Stem Cell Research at Ottawa Hospital Research Institute (OHRI), and colleagues, found the WNT7a protein stimulates muscle repair by causing proliferation (an increase in number) of "satellite stem cells." They say the protein probably operates similarly in humans. The findings were published June 5, 2009, in the journal Cell Stem Cell.

Silencing Toxic Genes

A new gene therapy approach to "silencing" disease-causing genetic information has been developed by researchers at Rutgers University in Piscataway, N.J., and Integrated DNA Technologies in Coralville, Ia.

EDMD Research: Lamin Defects

Mutations in the lamin A/C gene on chromosome 1 and the emerin gene on the X chromosome both can cause Emery-Dreifuss muscular dystrophy (EDMD), but the precise mechanisms by which they do so are still being identified.

Now, a multinational team has found that, in mice with an EDMD-like disease, lamin protein defects interfere with the way cell nuclei normally localize in skeletal-muscle fibers at the point where each fiber receives signals from a nerve cell.

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