Receptor identified as potential target for treatment of autism

Scientists from The Scripps Research Institute (TSRI) have uncovered a significant – and potentially treatable – relationship between a chemical that helps transmit signals in the brain and genetic mutations present in a subset of individuals with autism spectrum disorder.

The new research findings focus on the role that the neurotransmitter serotonin plays in the development of social behaviour. Serotonin, together with the serotonin receptors it activates in the brain, plays a significant role in neurological processes, including mood, anxiety, aggression and memory.

The study made use of an animal model of mutations in the gene Pten, a risk factor present in a subgroup of individuals with autism. Treatment of this model with a drug that suppresses the activity of a particular serotonin receptor, 5-HT2cR, can have a dramatic effect.

Discovery could lead to new therapeutic strategies for autism

“Our research shows that targeting one specific serotonin receptor can reverse social deficits in a mouse model of the autism risk gene Pten,” said Julien Séjourné. “This discovery is important for understanding the role of this specific subtype of serotonin receptor in autism-relevant behaviours and could lead to new therapeutic strategies.”

“We found a striking contrast between the effects of dialling down the activity of the receptor using a drug, which improved social deficits in the Pten model, versus removing the receptor completely by mutation, which actually impaired social behaviour,” added TSRI Assistant Professor Damon Page, who led the study. “Important issues will be uncovering the mechanism by which modulating serotonin receptor activity can influence autism-relevant symptoms and identifying the time window and dose range where targeting serotonin receptors is most effective.”

Page was recently awarded a $2.4 million grant from the US National Institutes of Health (NIH) to further study the relationship between abnormal patterns of brain growth, neurotransmitter signalling and the behavioural and cognitive symptoms in individuals with autism spectrum disorder.

“The new grant will let us expand our research into the relationship between specific risk factors, altered brain development and key neurotransmitter systems, with the ultimate goal of moving toward individualised treatments for particular subgroups of individuals with autism spectrum disorder,” he said.