Developments in Brief : Hope Seen in Study of Muscular Dystrophy

Researchers believe that within three months they will isolate the entire gene responsible for Duchenne muscular dystrophy, which would be a major step toward unraveling the mystery of the fatal disease that strikes one in every 3,300 males.

Last fall, researchers at Boston Children’s Hospital announced that they had identified the gene that causes the most common form of muscular dystrophy and isolated part of it. Last week, scientists at the Hospital for Sick Children in Toronto said they have isolated more of it.

Dr. Ronald Worton, geneticist-in-chief at the renowned Toronto hospital, said the U.S. and Canadian groups together have reported isolating 25% of the gene. But the teams have isolated almost the entire gene since the reports were prepared.

Dr. Arthur Burghes, one of the Toronto researchers, predicted that the two teams would together isolate the full gene within three months. “I’m convinced now that this will lead in the very near future to a complete understanding of the disease,” Worton added.

After the gene is isolated, researchers must determine the makeup of protein produced by the gene. “And once we know that, and where in the muscle cells the protein operates, we expect to learn what happens when the protein is defective,” possibly leading to ways to correct such a defect, Worton said.

Duchenne muscular dystrophy is marked by progressive muscular weakness and usually death by age 20. Researchers believe that it is caused by the absence of a protein essential to normal muscle function. When the genetic error occurs, the protein either is defective or simply absent.