The first definitive genes associated with Tourette syndrome have been identified, giving scientists a foothold on the biology of the disease, UCLA researchers announced Wednesday.
The report in the new issue of the journal Neuron describes the discovery of rare mutations — either deletions or duplications of genetic material — in two neurodevelopmental genes in people with the disorder, which is characterized by multiple chronic, involuntary motor and vocal tics.
“This is a first, key step in understanding the role of these genes in the disease process and ultimately in pointing the field toward possible therapeutic strategies,” said Dr. Giovanni Coppola, a professor of psychiatry and neurology at UCLA’s Semel Institute for Neuroscience and Human Behavior, and the study’s co-senior author. “All of us in the field have been trying to understand which genes increase the risk of disease.”
For the study, researchers from UCLA and Massachusetts General Hospital analyzed data collected from more than 2,400 people with Tourette syndrome. There’s no cure for the affliction, and no one medication is helpful to all people with Tourette syndrome or suppresses all symptoms.
Previous research has shown Tourette syndrome has a clear genetic component, but genetic risk appears to be very complex, possibly involving different genes in different individuals.
Several small studies have identified genes that appear to contribute to Tourette syndrome risk, Coppola said, but none of them met the statistical threshold of significance.
–City News Service