.webp)
Researchers discover that removing the ASTN2 gene in mice causes behaviors similar to autism, highlighting the cerebellum's role in the condition.
A brand-new study from Rockefeller University has revealed new insights into autism spectrum disorder (ASD) by exploring the effects of deleting a specific gene. Published on August 16, 2024, in Proceedings of the National Academy of Sciences (PNAS), this research highlights how the absence of the ASTN2 gene in mice leads to behaviors reminiscent of autism, including hyperactivity, repetitive actions, and social communication challenges.
ASTN2, a gene previously linked to neurodevelopmental disorders, was found to influence cerebellum function—a brain region traditionally associated with motor control but increasingly recognized for its role in cognitive and social behaviors. The study, led by Michalina Hanzel and lab director Mary E. Hatten, involved creating mice lacking the ASTN2 gene to observe their behavioral and neurological traits.
The knockout mice exhibited reduced vocalizations, less social interaction, and increased repetitive behaviors compared to their wild-type counterparts. These characteristics align with common ASD traits observed in humans. Structural analysis of the cerebellum in these mice revealed notable changes, including an increased density of dendritic spines on Purkinje cells and altered Bergmann glial fibers, which may disrupt communication between the cerebellum and other brain regions.
This research underscores the cerebellum's unexpected role in cognitive functions and provides a valuable model for studying ASD. Future studies will examine human cerebellar cells to further explore these findings and investigate other autism-related genes.
.webp)
