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Muscle-repair defect underlies two muscular dystrophies

A protein defective in two types of muscular dystrophy also appears to be important in repairing damaged muscle, according to Howard Hughes Medical Institute researchers at the University of Iowa College of Medicine.

The discovery reveals the first known component of the machinery that repairs the damaged membrane in a muscle fiber. Further studies of this and related proteins could lead to a better understanding of disorders that affect cardiac and skeletal muscles.

Howard Hughes Medical Institute investigator Kevin Campbell and Dimple Bansal led the research group that published its findings in the May 8, 2003, issue of the journal Nature. Campbell and his colleagues reported that their studies in mice showed that a mutant form of the muscle protein dysferlin prevents normal muscle repair in limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM). Campbell and his colleagues at the University of Iowa College of Medicine collaborated with Paul McNeil and his laboratory at The Medical College of Georgia.

The two forms of muscular dystrophy, which are relatively rare, have a later onset than other types of muscular dystrophy. Another research group had shown that mutations affecting dysferlin caused the muscular dystrophies, said Campbell, but little was known about how its absence caused disease.

The only thing that was known was that dysferlin resembled a protein found in the roundworm C. elegans that was responsible for mediating the fusion of vesicles to the plasma membrane, said Campbell. But nothing else was known of its function in muscle. Vesicles are the tiny cargo-carrying sacs responsible for transporting proteins and other molecules to their destinations inside cells.

We were especially intrigued by this particular disorder because it seemed to be different than the other dystrophies we had been studying, he said.


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Contact: Jim Keeley
keeleyj@hhmi.org
301-215-8858
Howard Hughes Medical Institute
7-May-2003


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