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.
|SOURCE The Bachmann-Strauss Dystonia & Parkinson Foundation|
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