Molecular Deficiency Appears To Play Key Role In Muscle Diseases

CHAMPAIGN, Ill. -- A molecule discovered on muscle tissue in a University of Illinois laboratory 13 years ago now appears to have pivotal roles in both embryonic muscle formation and in muscle stabilization later in children and adults.

A deficiency of the molecule -- known as the Alpha 7 integrin -- was positively linked to three cases of congenital muscular dystrophy. The finding was discussed in a paper published in the May 19 issue of Nature Genetics.

That finding and accumulating evidence on the multifaceted roles of the Alpha 7 integrin may have significant implications in the understanding of numerous other forms of muscle diseases and in potential therapies, said Stephen J. Kaufman, a professor of cell and structural biology at the U. of I. The integrin was discovered in 1985 in Kaufman's lab and has since been the focus of his research.

Kaufman was one of 17 authors from eight U.S. and Japanese research institutions involved in the Nature Genetics report. He and Dean J. Burkin, a postdoctoral researcher in cell and structural biology, have written a comprehensive review article on the role of the Alpha 7 integrin in muscle development and disease. It will be published in the journal Cell and Tissue Research.

Kaufman's work -- funded by the Muscular Dystrophy Association of America and the National Institutes of Health -- began as basic research on skeletal muscle formation and has evolved into asking what happens when things go wrong with muscle integrity. Kaufman now believes that the integrin may be "a very important player in the very early steps of muscle development, including the formation of neuromuscular and myotendinous junctions."

"We believe it is important for the formation and integrity of these junctional sites," he said. "It also is found between muscle fibers, where it 'glues' fibers together. This integrin also serves as an adhesive agent in different stages of development."

One focus of his res

Contact: Jim Barlow
University of Illinois at Urbana-Champaign

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