Tuberous Sclerosis: Shedding light on the neural circuitry of autism

On 5 October 2016, Mustafa Sahin presented an update on translational research in Tuberous Sclerosis Complex.

His talk was part of the Simons Foundation Autism Research lecture series.

About the Lecture

In this lecture, Mustafa Sahin presented the rationale for investigating Tuberous Sclerosis Complex (TSC) as a way to understand the cellular and circuitry alterations underlying autism spectrum disorder. Using a combination of cell culture, mouse behavior and human electroencephalography (EEG) and magnetic resonance imaging (MRI) experiments, Sahin and colleagues have demonstrated abnormalities in neuronal connectivity and neuron-glia interactions in TSC. Inhibitors of mammalian target of rapamycin (mTOR) proteins are effective in mouse models of TSC and are being tested in clinical trials now. A better understanding of TSC can also provide insights for related neurodevelopmental disorders in which similar cellular and circuit abnormalities can be detected.