Novel Therapeutic Strategies for Autism

The goal of this study is to understand the causal mechanism underlying synaptic and behavioral deficits in autism, and develop mechanism-based therapeutic strategies for this complex brain disorder. In previous studies. Dr. Yan and colleagues discovered how to reverse certain disruptions of neuronal communication stemming from the deletion of the Shank3 gene, which results in autism-like behaviors in an animal model. They found that the disruption of this neuronal communication results from the dysregulation of actin filaments, a kind of cellular “highway” in the brain’s prefrontal cortex, the command center for high level executive functions and a key region implicated in ASD. Dr. Yan and colleagues found that once the expression or activity of certain actin regulators was returned to normal, which allowed for the normal trafficking and functioning of important neuronal receptors, they were able to restore social behaviors in these mice. Dr. Yan and colleagues hope to extend their research on novel therapeutic strategies for autism by finding an effective treatment for patients with ASD who have genetic deletion or loss-of-function mutations of Shank3. They also will study how these findings might be applied to treating ASD when other genetic mutations are implicated.