Roanoke Times
Copyright (c) 1995, Landmark Communications, Inc.
DATE: FRIDAY, February 21, 1992 TAG: 9202210119
SECTION: NATIONAL/INTERNATIONAL PAGE: A-8 EDITION: METRO
SOURCE: Associated Press
DATELINE: BOSTON LENGTH: Medium
SCIENTISTS ISOLATE MD GENE
Researchers said Thursday they have pinpointed the gene that causes the most common adult form of muscular dystrophy, the latest in a series of discoveries that should lead to early diagnosis and perhaps eventual treatment.The discovery already provides more clues about why this inherited disease gets worse as it is passed from generation to generation.
The disease, called myotonic dystrophy, affects about one in every 7,000 to 8,000 people worldwide.
Three research teams with members in the United States, Canada and Europe discovered the gene almost simultaneously. One of their reports will be published in today's issue of the journal Cell. The other two will appear March 6 in the journal Science.
"The new results will permit very precise methods for diagnosing the disease prenatally and before symptoms appear and [for] identifying carriers" of the gene, said Dr. Henry Epstein of Baylor College of Medicine in Houston, a member of one of the research teams.
Experts caution, however, that the discovery does not immediately suggest any obvious ways of stopping or preventing the disease, which causes weakness and wasting of muscles.
"Treatment is not just around the corner," said Dr. David Brook of Massachusetts Institute of Technology, another co-discoverer.
However, the findings at least help scientists begin a systematic search for therapies.
"Knowing the gene permits one to work toward that goal," Epstein said.
Just two weeks ago, many of the same researchers reported the discovery of an abnormal section of gene that appears to be the critical flaw in this form of muscular dystrophy. Now scientists have isolated virtually the whole gene, and provided more details about how it goes bad.
The discovery should allow them to figure out what role this gene normally plays in healthy people. Then scientists will be able to decipher the exact irregularities that occur when it is defective.