ROANOKE TIMES
Copyright (c) 1996, Roanoke Times
DATE: Thursday, November 28, 1996 TAG: 9611290106
SECTION: NATL/INTL PAGE: A1 EDITION: HOLIDAY
DATELINE: NEW YORK
SOURCE: ASSOCIATED PRESS
The most common and severe form of muscular dystrophy in children might be treatable by making muscles overproduce a certain protein, a study in mice suggests. Now the challenge is to find a drug to do that.
The Muscular Dystrophy Association, which helped pay for the work, called the study a landmark.
Duchenne dystrophy is an inherited disease that affects boys, appearing in about one in every 3,500 male births. Muscles start degenerating in early childhood, and patients usually need a wheelchair by about age 12. They often die in their 20s because of breathing and heart problems.
The muscles waste away because they don't have a protein called dystrophin. That's because the dystrophin gene is defective.
But patients do make a related protein called utrophin. The mice study suggests that if patients make more of it, the utrophin may be able to rescue muscles by standing in for the missing dystrophin.
Researchers said they are hopeful of finding a drug that can kick the utrophin gene into overdrive.
The therapy would probably have to start before age 5 - even before symptoms become noticeable - to prevent muscle damage from the disease, said researcher Kay Davies. Screening tests can detect the disease even in newborns, and the therapy could begin soon after, she said.
Even if the treatment started later in childhood, it might be able to keep the disease from getting worse, Davies said. So, a child might be able to avoid using a wheelchair, or a boy in a wheelchair might live longer with a better quality of life, she said.
Davies, a genetics professor at Oxford University, reported the mice study with colleagues in today's issue of the journal Nature.
The work raises ``an exciting new avenue for therapy,'' said Donald S. Wood, the dystrophy association's director of science technology. However, he cautioned that nobody knows yet whether it would work in patients.
The researchers used mice that lack the dystrophin protein and normally show muscle abnormalities like those seen in Duchenne patients. The researchers created experimental strains of these mice that overproduced utrophin because of an inserted gene.
The experimental mice showed far less muscle abnormality than the other mice, because their extra utrophin had stepped in for the missing dystrophin.
``We're really excited,'' Davies said.
Researchers are now studying whether the muscles are as strong as normal, a crucial question. Another important unknown is whether the utrophin will continue to work in the long term, since patients would have to be treated for decades.
LENGTH: Medium: 55 linesby CNB