ROANOKE TIMES

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

DATE: WEDNESDAY, March 24, 1993                   TAG: 9303240142
SECTION: NATIONAL/INTERNATIONAL                    PAGE: A-1   EDITION: METRO 
SOURCE: Knight-Ridder/Tribune
DATELINE: BOSTON                                LENGTH: Medium


GENE THAT CAUSES HUNTINGTON'S FOUND AFTER 10-YEAR SEARCH

After a 10-year search marked by false leads and frustration, jubilant scientists Tuesday said they have finally identified the mutant gene that causes Huntington's disease, an inherited degenerative disorder.

At a news conference, researchers at Massachusetts General Hospital's East lab in Charlestown celebrated the culmination of the longest, most difficult search yet for an inherited disease gene.

"This is a great day," said Dr. Francis Collins, a geneticist at the University of Michigan and new director of the U.S. Human Genome Project, which aims to map and isolate all human genes. "This was the big fish that keeps getting away," he said. Collins' lab led one of six teams involved in the research collaboration that pursued the gene over a decade.

Although the hope is to find a treatment for the lethal disease, James F. Gusella, the MGH scientist in whose lab the gene was found, cautioned it is too early to know if this will be possible.

Now that the gene has been identified, however, many more people will be able to take a test that can detect the gene years or decades before the disease strikes. Whether to take the test, however, remains an agonizing dilemma for those who may have inherited the Huntington's gene.

Huntington's disease, in which brain degeneration destroys the patient's control over movements and causes depression and personality changes, affects about 30,000 Americans. Another 150,000 have as much as a 50-50 chance of inheriting it.

Huntington's killed folksinger Woody Guthrie. His singer-songwriter son, Arlo, has a chance of inheriting it but he has no signs of the disease.

Each human cell contains 50,000 to 100,000 genes, and the cause of Huntington's, the scientists said, is a large gene on chromosome 4 containing a curious type of mutation. Instead of missing chunks of genetic code, or errors in a single "letter" of the code, the Huntington's gene contains a three-letter sequence that repeats over and over.

One scientist Tuesday termed this a genetic "stutter."



by Archana Subramaniam by CNB