Twin studies have demonstrated autism to be the most heritable common neuropsychiatric syndrome. The most consistent biological marker in autism is elevated platelet serotonin (5HT), present in approximately one-third of patients. The 5HT transporter (SERT) is responsible for uptake of 5HT in the platelet, and association studies implicate the SERT gene (SLC6A4) as a quantitative trait locus for platelet 5HT in males. The Sutcliffe and Blakely labs have identified several rare functional amino acid variants in SLC6A4 that are preferentially transmitted to males with autism and rigid-compulsive traits. My research employs transgenic mouse models of these SERT variants to understand their impact on the brain and platelet 5HT systems, as well as on brain morphology and behavior. The impact of these rare SERT variants in mouse brain may reveal a system of genes and proteins that are perturbed in a larger group of patients with autism. By using variants identified in autism, we may also be able to identify a mouse behavioral readout with molecular validity for future animal studies relevant to autism.

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    Autism Serotonin Obsessive Compulsive Anxiety