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Treatment in mice proves effective against Duchenne muscular dystrophy

CHAMPAIGN, Ill. Mice carrying the same gene deficiencies as humans with Duchenne muscular dystrophy experienced dramatic improvements in both their physical condition and life span following an experimental treatment by researchers at the University of Illinois.

By enhancing the production of a naturally occurring molecule on muscle tissue, the scientists reduced muscle-related problems and increased by three-fold the lifetimes of affected mice. Their work appears in the March 19 issue of the Journal of Cell Biology.

The work suggests that a gene therapy or a pharmaceutical approach targeting the molecule may be possible for human treatment, said Stephen J. Kaufman, a professor of cell and structural biology and of the College of Medicine. "The implications are that you could do gene therapy with an integrin chain to treat a muscular dystrophy thats caused by a membrane protein deficiency," he said. "Or you could chemically stimulate integrin chain production from the patients existing integrin chain genes."

Kaufmans lab discovered the molecule in question the alpha 7 integrin in 1985. A deficiency of this molecule exists in several forms of congenital muscular dystrophy. Conversely, Kaufman and his colleagues found that more of the integrin is present in Duchenne patients. These patients fail to produce another protein, dystrophin, which muscles also require for structural and functional integrity.

This discovery led to the idea that excess integrin may compensate for the lack of dystrophin and another similar protein, utrophin. To test their hypothesis, Kaufmans team used mice that did not produce dystrophin or utrophin, and they engineered them to produce even more of the alpha 7 integrin protein. Untreated mice developed debilitating muscular dystrophy, suffered severe weight loss and 50 percent died before reaching 12 weeks of age. Mice with enhanced alpha integrin production did not suffer severe muscular problems, maintained good m
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Contact: Jim Barlow
b-james3@uiuc.edu
217-333-5802
University of Illinois at Urbana-Champaign
18-Mar-2001


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