11:35pm Saturday 28 March 2020

Gene Mutations Identified As Cause of Primary Torsion Dystonia

Mount Sinai researchers have identified mutations in gene THAP1 as a cause of primary torsion dystonia. The discovery may lead to new treatments for this debilitating disease.

Mount Sinai researchers have identified mutations in gene THAP1 as a cause for primary torsion dystonia. This is the second gene identified for this type of dystonia. The study was published online on February 1st in Nature Genetics. Mount Sinai worked with Beth Israel Medical Center on this research, which was partly funded by The Bachmann-Strauss Dystonia & Parkinson Foundation, the Dystonia Medical Research Foundation and the National Institute of Neurological Disorders and Stroke (NINDS).

Dystonia is a movement disorder that causes muscles to contract and spasm involuntarily and is characterized by twisting movement and abnormal postures. According to The Bachmann-Strauss Dystonia & Parkinson Foundation, dystonia affects an estimated 500,000 people in North America. At least 15 different types of dystonia are considered to be genetic.

Researchers discovered a mutation in the THAP1 gene in three Amish-Mennonite families with mixed-onset primary torsion dystonia (DYT6 dystonia). “Another mutation in a German family with this type of dystonia was also identified, suggesting that THAP1 mutations may cause dystonia in other ancestry groups,” said study co-author Laurie Ozelius, PhD, Bachmann Strauss Professor and Associate Professor of Genetics and Genomic Sciences and Neurology at Mount Sinai School of Medicine.

While this is the second gene (DYT1) identified for primary torsion dystonia, the DNA binding function attributed to THAP1 has not previously been associated with dystonia. “Identification and characterization of downstream targets of THAP1 should provide a basis for investigating the pathophysiology and devising novel treatments for this poorly understood and disabling disease,” said Dr. Ozelius.

We are thrilled by these new findings, which should open up the science in many different ways, said study co-author Susan Bressman, MD, Chairman, The Alan & Barbara Mirken Department of Neurology at Beth Israel Medical Center. “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.”

This impressive discovery will play an important role in furthering our understanding of this terrible disease, said Bonnie Strauss, President and Founder of The Bachmann-Strauss Dystonia & Parkinson Foundation.

About The Mount Sinai Medical Center
The Mount Sinai Medical Center encompasses The Mount Sinai Hospital and Mount Sinai School of Medicine. The Mount Sinai Hospital is one of the nation’s oldest, largest and most-respected voluntary hospitals. Founded in 1852, Mount Sinai today is a 1,171-bed tertiary-care teaching facility that is internationally acclaimed for excellence in clinical care. Last year, nearly 50,000 people were treated at Mount Sinai as inpatients, and there were nearly 450,000 outpatient visits to the Medical Center.

Mount Sinai School of Medicine is internationally recognized as a leader in groundbreaking clinical and basic-science research, as well as having an innovative approach to medical education. With a faculty of more than 3,400 in 38 clinical and basic science departments and centers, Mount Sinai ranks among the top 20 medical schools in receipt of National Institute of Health (NIH) grants.

Icahn School of Medicine at Mount Sinai

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