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Biologists, 8 from MIT, Find Huntington's Gene

By Kevin Subramanya
Staff Reporter

The longest search for an inherited disease gene recently came to an end when a group of scientists that included eight MIT biologists, announced on March 23 that they had identified the gene responsible for Huntington's disease.

The results of the discovery appeared in the March 26 issue of the journal Cell.

Huntington's disease is a disease characterized by involuntary jerky movements, mood swings, slurred speech, depression, and eventual dementia. The age of onset of the disease is variable, but people with the trait usually begin showing symptoms between the ages of 30 to 50. Death usually follows within 15 years.

The gene was found on chromosome four at Massachusetts General Hospital by James F. Gusella PhD '80, a former graduate student of biology Professor David E. Housman, who was also involved in the research.

MIT is one of the six collaborating institutions involved in the work. One of the most significant contributions to the discovery of the Huntington's gene was the unique technique developed in the laboratories of Housman and Professor Phillip A. Sharp, head of the biology department.

The unique technique, called "exon amplification," enables researchers to cut out the pieces of the gene of interest from the introns, which are pieces of DNA unrelated to gene expression.

Approximately 30,000 Americans have Huntington's disease and about 150,000 are at risk. Children of a parent who has Huntington's disease are at 50 percent risk of inheriting the bad gene associated with it.

There is no cure for Huntington's disease. However, people will be able to take a more improved test that will allow detection of the gene several years before onset. The recent discovery of the gene helped to improve this test.

The other contributors at MIT were: Deanna M. Church, a research affiliate at the Center for Cancer Research; Michael C. O'Donovan, a postdoctoral fellow at CCR; Laura E. Riba-Ramirez, a technical assistant at CCR; Manish A. Shah G; and Vincent P. Stanton, a postdoctoral associate at CCR.

In addition to MIT and MGH, the other institutions involved in the research were: the University of Michigan, Imperial Cancer Research Fund, University of Wales, and University of California at Irvine.