Mutations of the neuroligin-3 gene have been found in individuals with autism spectrum disorder. In new research conducted in part at the laboratory of Robert Malenka, M.D., Ph.D., Brain & Behavior Research Foundation Scientific Council Member and NARSAD Grantee, these mutations have been found to disrupt a signaling system crucial to proper synaptic connections in the brain.
Genetic Link to Faulty Brain Signaling Offers Target for Autism Treatment
The signaling system is that of endocannabinoids, molecules that are involved in many critical brain processes, including those involving regulation of mood, memory, pain and appetite. The transmission of their signals tone down communications between neurons, and this relay gets blocked when the neuroligin-3 mutations are present. With these signals blocked, further electrical signals at synapses are compromised.
“This work suggests that dysfunctions in the brain's endocannabinoid signaling system may contribute to the pathophysiology of certain types of autism,” says Dr. Malenka, Professor, Psychiatry & Behavioral Science, Stanford School of Medicine. “It's exciting because this signaling system provides potential drug targets but first a great deal more work needs to be done to understand how our findings may contribute to the brain circuit abnormalities that are responsible for the core symptoms of autism.”
The research involved collaboration between the Stanford University Medical School laboratories of Dr. Thomas Südhof and Dr. Robert Malenka. Results of the work were published online on April 11, 2013 in Neuron and indicate that targeting components of the endocannabinoid signaling system may help reverse autism symptoms.
Read one of our ten “2012 Highlight” discoveries about another link of the endocannabinoid signaling system to autism