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The Bachmann-Strauss Dystonia & Parkinson Foundation: New Study Identifies Gene Mutations as Cause of Dystonia in Amish-Mennonite Families

Breakthrough findings contribute to better understanding of little-known disease and may lead to development of new therapies

NEW YORK, Feb. 3 /PRNewswire/ -- A new research study has identified mutations in the THAP1 gene as a cause of primary torsion dystonia (DYT6 type) in Amish-Mennonite families and cited a second mutation in a non-Mennonite family showing that THAP1 causes dystonia in other ethnic groups.

A paper entitled "Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia" was published February 1, 2009 on-line in the journal Nature Genetics. Co-investigators on the study are Susan Bressman, MD, chair, Department of Neurology, Beth Israel Medical Center, and Laurie Ozelius, PhD, Associate Professor, and Bachmann-Strauss Professor, Mount Sinai School of Medicine, New York City.

This new body of research also revealed that the THAP1 gene has DNA binding and apoptosis (or cell death) functions, neither of which were previously associated with primary torsion dystonia. In addition it showed that the mutations in THAP1 can impair DNA binding. The protein encoded by THAP1 is predicted to bind DNA near the start site of other genes and then turn on or off the expression of those genes. Since there are a number of factors that come into play in addition to this "transcription factor", a mutation that impairs DNA binding could upset that balance and, as a consequence, turn other genes on or off, contributing to dystonia.

"The DNA binding function attributed to this gene has not previously been associated with dystonia. The discovery of this gene could help us develop new treatments in the future to prevent this debilitating disease," said Dr. Ozelius.

This is the second gene identified for primary torsion dystonia. The first, discovered ten years ago, was the DYT1 gene which was found to be mutated in most people with early onset dystonia. While people may carry the DYT1 or THAP1 genes, they may not show clinical symptoms, suggesting that other genes or environmental factors also play a role in these diseases.

"We are thrilled by these new findings, which should open up the science in many different ways," said Dr. Bressman. "Studies are underway to determine the role of THAP1 in other families and populations. Based on the families we identified, dystonia due to DYT6 is similar to DYT1 in that it starts in childhood and can affect many muscles but, unlike DYT1, people who have the DYT6 mutation are more likely to have problems in the lower face, jaw and vocal cords."

Dystonia is a neurological muscle disorder that causes uncontrollable, painful spasms in one or more parts of the body. It strikes an estimated 500,000 people in North America alone, affecting more people than muscular dystrophy, Huntington's disease and Lou Gehrig's disease combined.

The Bachmann-Strauss Dystonia & Parkinson Foundation provided funding in part for this study and for the earlier discovery of the DYT1 gene.

"This impressive discovery will play an important role in furthering our understanding of this terrible disease," said Bonnie Strauss, president and founder of the organization.

Established in 1995 to find better treatments and cures for the movement disorders, dystonia and Parkinson's disease, The Bachmann-Strauss Dystonia & Parkinson Foundation is an independent, nonprofit, 501(c)3 organization. Its funding is made possible through the generosity of individual and corporate contributors.

SOURCE The Bachmann-Strauss Dystonia & Parkinson Foundation
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