Genetic Link To Autism And Oxytocin

The hormone oxytocin is known to play a huge role in all manner of human social roles, behaviors, and interactions. As such, it’s long been hoped to have the potential to form the basis of treatments for patients suffering from various social handicaps, such as those with autism.

Now a team of researchers at the University of Basel have found an apparent link between a genetic mutation that appears to lead to the social difficulties related to autism, and a reduction in the effect of oxytocin. The researchers claim their finding could lead to new treatments for autism and have already had promising results on mouse models.

Among the many genes thought to be associated with autism is a particular one that encodes the synaptic adhesion molecule neuroligin-3. Working with mouse models, the team of Swiss based researchers established the surprising link between that gene and an oxytocin signaling pathway. And although the gene appears to reduce the ability of the brain to be receptive to oxytocin signalling, this can be reversed by inhibiting protein synthesis.

Furthermore, the research team demonstrated that alterations in the oxytocin system in mice with a neuroligin-3 mutation can be restored by treatment with a pharmacological inhibitor of protein synthesis. This treatment normalized the social behavior of the mice: Like their healthy conspecifics, they reacted differently to familiar mice or mice foreign to them. Importantly, the same inhibitor also improved behavioral symptoms in a second rodent model of autism, indicating that it could be more widely applied in the treatment of autism.