Medical Science

Chasing an Autism Biomarker down the Trail of Brain Development
Jeremy Veenstra-Vanderweele, Vanderbilt University

Autism Spectrum Disorder (ASD) is a common behavioral pattern that can emerge in the context of myriad genetic syndromes or rare gene variants but also occurs without a known risk variant in ~80% of cases. Subgrouping this heterogeneous group based upon behavior has been largely unsuccessful, and genetic subgroups are individually rare. Biological markers may identify a subgroup within ASD that shares a common neurobiology. Increased whole blood serotonin (5-HT), termed hyperserotonemia, is present in 30% of children with ASD. Variation in the 5-HT transporter (SERT) gene is associated with whole blood 5-HT levels, ASD susceptibility, and sensory aversion. Multiple gain-of-function SERT variants are present in children with ASD. Transgenic mice expressing one of these variants, SERT Ala56, exhibit enhanced 5-HT clearance rates and hyperserotonemia, as well as alterations in social communication and repetitive behavior. These behavioral findings are accompanied by altered firing of 5-HT neurons, as well as receptor hypersensitivity in adult animals. Prior to its role at the mature synapse, 5-HT shapes brain development. Our emerging data point to altered thalamic projections to the somatosensory cortex in SERT Ala56 mice. Further, we find a decrease in cortical GABAergic neurons that may indicate altered neuronal migration. These model system findings suggest hypotheses that can be tested in a biomarker-defined subgroup of children with ASD, potentially leading to treatments that target the developmental consequences of an altered 5-HT system.

Background Review Article:
Veenstra-VanderWeele, Jeremy, and Randy D. Blakely. "Networking in autism: leveraging genetic, biomarker and model system findings in the search for new treatments." Neuropsychopharmacology 37.1 (2011): 196-212.

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Medical Science

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