Researchers from The Hospital for Sick Children and the University of Las Vegas Nevada have identified a genetic connection between autism spectrum disorder (ASD) and myotonic dystrophy type 1 (DM1), a rare inherited condition characterized by progressive muscle loss and weakness. Their findings, published in Nature Neuroscience, highlight a new mechanism that may contribute to the social behaviors often associated with ASD.
DM1 is caused by tandem repeat expansions (TREs) in the DMPK gene. While ASD affects about one percent of the general population, it is 14 times more common among individuals with DM1. The study found that TREs not only cause DM1 but also impact brain development by interfering with gene splicing, a process essential for proper gene function. This interference leads to a protein imbalance and mis-splicing of multiple genes involved in brain function, which may explain why some individuals with DM1 exhibit ASD-related behaviors.
“Our findings represent a new way to characterize the genetic development of autism,” explained Ryan Yuan, study leader. “By identifying the molecular pathway behind this connection, we can begin to investigate new approaches to ASD diagnosis and the development of precision therapies that release these proteins back into the genome.”
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TREs are repeated sections of DNA that, when expanded, increase the risk of gene function errors. In 2020, Yuen identified over 2,588 sites in the genome where TREs were more prevalent in people with ASD.
“A variation really stood out to me that we see in rare neuromuscular disease,” added first author Łukasz Sznajder. “This is how we started connecting the dots. We found a molecular link, or overlap, which we believe is the core of causing autistic symptoms in children with myotonic dystrophy.”
The research teams are now investigating whether similar gene mis-splicing occurs in other genes associated with ASD and how their discoveries could inform targeted therapies.