Small RNAs and Editing in Autistic Brains
Autism is a common neurodevelopmental disorder characterized by a spectrum of social deficits, communication impairments, stereotyped interests, and repetitive behavior. Twin and family studies provide substantial evidence that autism is among the most heritable complex disorders, but the molecular mechanism underlying the majority of autism cases remains unknown. Understanding the genetic basis of autism is needed to improve diagnosis and provide critical targets for intervention and prevention. The long-term goal of this research was to characterize the genetic and molecular mechanisms that predispose to autism spectrum disorders (ASD). The objective of this research project was to investigate the involvement of RNA-mediated post-transcriptional regulation in ASD. MicroRNAs (miRNAs) and small nucleolar RNAs (snoRNAs) are gaining increasing recognition for their key role in orchestrating complex brain development. Both molecules are heavily involved in A-to-I editing, which is crucial for appropriate animal behavior. As the regulators affect multiple transcripts, each subject to sequence variation of its own, the investigators hypothesized that alterations in these upstream regulatory mechanisms could account for the broad phenotypic spectrum and complex inheritance pattern observed in autism.
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