Scientists locate key MS gene


MIAMI – After decades of searching, teams of researchers at the University of Miami and elsewhere have found a gene linked to multiple sclerosis that could lead to breakthroughs in understanding and treating the disease.

The news was released Sunday in related reports in Nature Genetics and the New England Journal of Medicine. The studies examined more than 10,000 DNA samples from MS patients in the United States and Europe to discover the genetic link.

Researchers hope the link between the gene and the disease can help pharmaceutical companies discover ways to treat and perhaps even avoid the onset of MS.

“This is the kind of major development that we’re expecting from our genetics research,” said Pascal Goldschmidt, UM’s medical school dean.

MS is a chronic inflammatory disease of the central nervous system in which the body’s own immune system attacks the spinal cord and other areas. According to the National Institute of Neurological Disorders, most patients experience “muscle weakness in their extremities and difficulty with coordination and balance.” MS affects about 350,000 persons in the United States. What exactly causes MS is unknown. There is no cure.

“The genetics of MS has been very difficult to crack,” said Jonathan Haines, a Vanderbilt researcher and co-author of the Nature Genetics paper.

MS is a complex disease. Researchers have long known that it tends to be more prevalent in the Northern Hemisphere, so that location, combined with a genetic predisposition, can be a major factor.

Pericak-Vance, co-leader of the overall project, has personally been on the quest for almost 20 years – going back to 1988 when she was at Duke. Because there are hundreds of thousands of variations in a person’s DNA, finding genetic links to diseases involves lengthy and complex searches.

“We’ve done genomic screens, and a lot of candidates were proposed but not confirmed,” Pericak-Vance said Friday. “This was actually confirmed by functional data.”

Goldschmidt, the UM dean, believes Pericak-Vance and colleagues have the greatest potential for breakthroughs in medicine. “Genetics is fascinating. It cuts across all these specialties and can help them all. There’s even the possibility to detect heart problems before they lead to death.”

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AP-NY-07-29-07 2026EDT