TSC1 Evidence Shows Role for Cerebellum in Autism
By Catherine Croft Swanwick, Ph.D. on July 18, 2012
Background: Scientists have long been searching for neural circuits underlying ASD. One suspected player is the cerebellum, a brain region important for balance and movement. Among the various pieces of evidence linking the cerebellum to ASD is the observation that cerebellar pathology is a common feature of individuals with Tuberous Sclerosis Complex (TSC), a genetic disorder in which many individuals also display symptoms of autism. TSC is caused by variants of the genes TSC1 and TSC2, which inhibit signaling of the mTOR pathway.
What’s New: Researchers genetically engineered mice which did not express TSC1 in their cerebellum. These mice displayed ASD-like behaviors, including abnormal social interaction and repetitive behavior/vocalizations. They also showed abnormal function of Purkinje cells, a major cell type of the cerebellum. Treatment of the mice with rapamycin, a drug which inhibits mTOR signaling, prevented the ASD-like behaviors and cerebellar dysfunction.
Why it’s Important: This evidence provides support for the role of the cerebellum in ASD. It also demonstrates roles for TSC1 in cerebellar function.
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