The pathomechanistic connection between autism and myotonic muscular dystrophy type 1.
By Hugo Francisco de SouzaAug 16 2023Reviewed by Lily Ramsey, LLM In a preprint uploaded to the Research Square* server, researchers used a combination of in vivo mice models and next-generation sequencing techniques to elucidate the pathomechanistic connection between autism and myotonic muscular dystrophy type 1.
What are ASD and DM1? Autism spectrum disorder is a neurodevelopmental disability affecting the brain. It is characterized by social communication or interaction problems, and restricted or repetitive behaviors or interests. The myotonic dystrophy protein kinase gene is one of many responsible for proper muscle development and function. Research has shown that mutations in this gene correlate with autism.
DM1 and ASD have been identified as comorbidities, with the latter correlating with the age of onset of the former. Like in DM1, developmental mis-splicing occurs in neuronal microexons , identified in ~30% of idiopathic ASD brains. Related StoriesTheir analyses focused on neuronal miEs mis-splicing in ASD-risk genes modulated by MBNL proteins, specifically MBNL1 and MBNL2, during murine and human brain development.
Results showed that, similar to humans, 61% of ASD-relevant gene sets were mis-splice-enriched in Mbnl cDKO murine frontal cortexes. Of these, 55 ASD-risk genes overlapped between humans and mice with ASD. Gene expression data from five mammalian brains was analyzed to infer the role of MBNL proteins and their AS in ASD-risk genes during organismal development.
Three-chamber tests which included familiar mice, stranger mice, and novel inanimate objects, were employed to test the sociability of these animals. WT mice spent significantly more time with strange mice than their genetically modified counterparts.
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