Scientists Discover New Dystonia Gene
A study led by Laurie Ozelius, PhD at Mount Sinai School of Medicine has identified a gene associated with primary torsion dystonia, also known as DYT6 dystonia. With funding provided by the Dystonia Medical Research Foundation (DMRF), Dr. Ozelius and her colleagues have found that mutations in the THAP1 gene cause primary torsion dystonia in Amish-Mennonite families as well as in other ethnic groups.
This gene discovery is one more important piece to the dystonia puzzle. The more pieces are in place, the closer we are to developing better therapies and a cure. The newly discovered DYT6 gene and protein can now be used as drug discovery targets.
"Primary torsion dystonia are rare and devastating diseases," explains the DMRF's Science Officer, Jan Teller, PhD. "This is the second gene identified for this type of dystonia. Its discovery will greatly contribute to our knowledge about molecular mechanism of all the dystonias."
“We are greatly excited about Dr. Ozelius' findings, as they will help us to better understand the many different factors responsible for this puzzling and disabling disorder," says Mahlon DeLong, MD, Scientific Director of the DMRF. "Dr. Ozelius has been a pioneer in genetic research on dystonia, and we are grateful for her unwavering commitment to this and the broader dystonia community."
"I am grateful to the DMRF for their support of this research," adds Dr. Ozelius. "The DMRF has supported gene identification studies throughout its history and has been a leader in recognizing that these studies represent an important first step leading to molecular insights into the disease."
