UNLV-led study in Nature Neuroscience expands our understanding of the disease linked with autism, opening possible new diagnostic and preventative approaches.

A recent study published in the journal Nature Neuroscience has drawn significant attention as it establishes a molecular connection between autism spectrum disorder (ASD) and myotonic dystrophy, particularly highlighting the role of the DMPK gene mutation. According to lead researcher Łukasz Sznajder, the findings reveal that this mutation disrupts the splicing processes of various genes associated with autism during critical stages of brain development, ultimately leading to characteristic autistic traits such as social interaction difficulties and repetitive behaviors. The research team, consisting of interdisciplinary scientists from prestigious institutions including The Hospital for Sick Children in Toronto, the University of Florida, Adam Mickiewicz University in Poland, and UNLV, pooled resources to analyze multiple datasets and conduct comprehensive behavioral testing in mouse models. The study identifies that while the autism-risk genes themselves are not inherently mutated in myotonic dystrophy, their expression and functionality are compromised, suggesting a downstream effect due to splicing dysregulation by MBNL proteins, which are sequestered by the mutated DMPK RNAs. The implications of this work are vast, as they not only enhance understanding of autism but may also inform future therapeutic strategies, potentially involving compounds like tideglusib, which has shown promise in ameliorating some autistic symptoms in children with myotonic dystrophy during trials. Moreover, the findings raise questions about the potential role of other genetic conditions in understanding autism, emphasizing the need for further exploration in this area. Given that approximately 95% of children with autism also have one or more comorbid conditions, the study provides crucial insights that could influence both clinical practice and future research into genetic interventions for ASD. This pivotal research is a notable advancement in the field, aimed at better diagnosing and possibly preventing autism through a deeper understanding of its genetic underpinnings. As this work continues to evolve, it could lead to innovative approaches in treating this complex neurodevelopmental disorder.