UCLA researchers led a study to identify the first two genetic mutations related to Tourette syndrome, which scientists say is significant progress in understanding the disease.
In the study published June 21, the researchers compared genetic data from those with and without Tourette syndrome. They found that people with the disease were more likely to have mutations in NRXN1 or CNTN6, which are neurodevelopmental genes. The two genes are responsible for the development of nerve cells and the connections between them.
Tourette syndrome is a neurological disorder characterized by involuntary and repetitive movements and vocalizations. Currently, there is no cure or medication that suppresses all symptoms of Tourette syndrome. Because previous research suggested Tourette syndrome is caused by genetic factors, UCLA researchers led an international team to pinpoint the genetic mutations causing the disease.
Researchers said identifying the genes that cause Tourette syndrome would allow them to focus on which exact cells in the brain are not functioning correctly at specific times, leading to possible treatments for the disorder.
The discovery of these genes is also valuable for other neurological disorders common among those with Tourette syndrome, such as obsessive-compulsive disorder and attention deficit hyperactivity disorder, the researchers said. They added they plan to study the role of the genes in these disorders as well.