Researchers Unravel a Link Between a Genetic Mutation and Autistic Behaviors

Scientists from the University at Buffalo (The State University of New York) have identified the mechanisms behind a genetic mutation that produces certain autistic behaviors in mice, in addition to therapeutic strategies to restore normal behaviors. The research, published in the journal Cell Reports, describes the cellular and molecular basis behind some autistic behaviors, and also suggests potential biomarkers and pharmaceutical targets. During the study, the researchers focused on the loss of a gene called Shank3, an important risk factor for autism spectrum disorder (ASD). Previous studies have shown that approximately 84 percent of people with a Shank3 deletion or loss-of-function mutation had ASD. However, just how this occurs has remained unknown. In the current study, researchers found that the Shank3 deficiency plays a key role in how neurons communicate — with a significant effect on the activation of the NMDA receptor — which is critical to learning and memory. The lead researcher of the study explained the Shank3 deficiency disrupts the trafficking of this receptor and its function at critical transmission sites in the brain. That disruption, they found, results from the dysregulation of actin filaments, which act as a kind of cellular “highway” in the prefrontal cortex, where high-level executive functions take place, and is a key region implicated in ASD. To read more about this study, click here.