A team of researchers at The Mount Sinai Medical Center and elsewhere recently discovered a causative gene for primary torsion dystonia (PTD), which sheds light on the genetic underpinnings of this debilitating movement disorder that affects an estimated 500,000 adults and children in North America. PTD is characterized by repetitive twisting muscle contractions throughout the body.
The findings—which appear in the December 9, 2012, issue of Nature Genetics—identified the gene GNAL after exome sequencing was performed on two families with PTD. Further investigation into GNAL revealed six additional mutations of the gene. Exome sequencing is an effective, less expensive alternative to whole genome sequencing.
“The successful application of exome sequencing for the identification of the GNAL gene proves that this is a powerful and efficient tool that will rapidly accelerate the pace of dystonia gene discovery and our understanding of the pathways involved in PTD,” says Laurie Ozelius, PhD, Associate Professor in the Department of Genetics and Genomic Sciences at Icahn School of Medicine at Mount Sinai.
Since GNAL belongs to a well-studied signal transduction pathway, the gene’s discovery opens multiple possibilities for therapeutic drug development, says the study’s lead author, Tania Fuchs, PhD, Instructor in the Department of Genetics and Genomic Sciences at the Icahn School of Medicine. GNAL is the fourth gene for PTD that has been discovered to date.
Dr. Ozelius and Dr. Fuchs collaborated with researchers from Beth Israel Medical Center and Albert Einstein College of Medicine in New York City; The Scripps Research Institute in Jupiter, Florida; the University of California, San Francisco; Emory University School of Medicine in Atlanta; Toronto Western Hospital; Jefferson Hospital for Neuroscience in Philadelphia; Parkinson’s and Movement Disorders Center in Southfield, Michigan; and Institut National de la Santé et de la Recherche Médicale, Paris.
Bonnie Strauss, President and Founder of the Bachmann-Strauss Dystonia and Parkinson Foundation, which funded the study along with the National Institutes of Health and the Dystonia Medical Research Foundation, said, “There is no definitive test or diagnosis for dystonia, nor is there a known cure. While hundreds of thousands of children and adults suffer from symptoms related to the disease a majority of patients never receive a proper diagnosis. This exciting new research may provide an opportunity for a definitive test to aid diagnosis and treatment.”
This article was first published in Inside Mount Sinai.