MUSCULAR DYSTROPHY GENE ABNORMALITY DISCOVERED

                         Roanoke Times
                 Copyright (c) 1995, Landmark Communications, Inc.

DATE: THURSDAY, February 6, 1992                   TAG: 9202060040
SECTION: NATIONAL/INTERNATIONAL                    PAGE: A-4   EDITION: METRO 
SOURCE: Associated Press
DATELINE: NEW YORK                                LENGTH: Medium
MUSCULAR DYSTROPHY GENE ABNORMALITY DISCOVERED
Scientists have discovered a genetic abnormality that apparently causes the most common adult form of muscular dystrophy, a discovery that could help research into developing a treatment.
The finding also should allow better diagnosis of the inherited condition, called myotonic dystrophy, prenatally or before symptoms appear in later life, experts said.
Early diagnosis is important because symptoms may not appear until after a person has had children, unwittingly passing along the flawed gene.
Myotonic dystrophy affects about one in every 7,000 to every 8,000 people worldwide. It causes weakness and wasting of voluntary muscles, and often produces difficulty in relaxing muscles, which interferes with movement.
It also can lead to life-threatening irregularities in heartbeat as well as cataracts, mental slowness, premature balding, gastrointestinal complications and sleep disorders.
Although one type of the disease is found in newborns and can kill quickly or cause severe mental retardation, myotonic dystrophy usually shows up in adolescence or early adulthood. It can lead to death in one's 50s or 60s because of heart or respiratory failure.
The new research is reported in today's issue of the journal Nature by three international research teams with members in Canada, The Netherlands, Sweden, Britain and the United States.
"This will lead to almost foolproof presymptomatic diagnosis or prenatal diagnosis," more widely applicable than a genetic method used now, commented Dr. Henry Epstein, director of the Jerry Lewis Neuromuscular Disease Research Center at the Baylor College of Medicine in Houston.
In addition, the discovery marks the start of learning details of what goes wrong in the body to cause the disease's effects, which could help lead to developing a treatment, he said in a telephone interview.
Epstein, who did not participate in the research, said the newfound genetic abnormality was of a type discovered only recently. It has appeared in two other, unrelated diseases.
"The bet is now on we'll be able to find this in other disorders, both inherited disorders as well as possibly some of the acquired problems like aging and cancer," he said.

by Bhavesh Jinadra by CNB