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Tuesday, 20 March, 2001, 01:24 GMT
Muscular dystrophy breakthrough
Lab work
Gene therapy may one day help humans
An experimental treatment for a form of muscular dystrophy has produced impressive results in laboratory tests on mice.

Mice carrying the same gene deficiencies as humans with Duchenne muscular dystrophy experienced dramatic improvements in both their physical condition and life span.

Duchenne muscular dystrophy, the most common form of the muscle wasting disease, affects one in 3,300 males.

The disease usually begins in early childhood and often is fatal by age 30.

The treatment, developed by researchers at the University of Illinois, involves enhancing the production of a naturally occurring molecule on muscle tissue.

Mice who were given the treatment experienced less muscle-related problems and lived three times as long as those not treated.

The researchers, led by Professor Stephen Kaufman, believe that their work opens up the possibility that gene therapy or drugs could be used to develop a similar treatment for humans.

Professor Kaufman's 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.

Protein problems

The technique was tested on mice
Duchenne patients have more of the integrin, but fail to produce another protein, dystrophin, which is also required for healthy muscles.

The new treatment is based on the theory that excess integrin compensates for the lack of dystrophin.

The researchers bred mice that produced no dystrophin, or another related protein called utrophin.

Untreated mice developed debilitation muscular dystrophy, suffered severe weight loss and half died before reaching 12 weeks of age.

But mice genetically engineered to produce more integrin did not suffer severe muscular problems, maintained good movement, and lived to an age of 38 weeks.

Professor Kaufman told BBC News Online: "This is significant in that it may help to develop ways to compensate for the lack of particular proteins in humans with Duchenne muscular dystrophy.

"However, I would not want to raise false hopes. Any possible treatment is four or five years away."

Dr Sarah Yates director of scientific affairs for the Muscular Dystrophy Campaign: "This is an interesting and potentially significant study, which will provide a strong focus for additional work.

But she added: "It does not represent a treatment for Duchenne or allied forms of muscular dystrophy in the short-term.

"There are many questions associated with the research which still need to be answered."

The research is published in the Journal of Cell Biology.

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