Recent years have provided substantial research displaying the effect of genetic mutations in the development of autism and other neurodevelopmental disorders. Based on those studies, researchers have focused attention on the commonalities behind those mutations and how they impact on the functioning of the brain. A study has found that genes associated with autism tend to be involved in the regulation of other genes and to operate preferentially in three areas of the brain; the cortex, the striatum, and the cerebellum.

The cerebellum is responsible for motor function and recent findings have indicated that it also contributes to the development of many social and cognitive functions. Based on these findings, the research team is hopeful this can lead to a better under-standing of the relation between the cerebellum and autism and even lead to new therapies in the future.

The research study published in Nature Communications tested one of the most prominent genes associated with autism, Pogz. Based on prior finding that links Pogz to developmental disorders and overly friendly behavior in some patients on the autism spectrum, the research team investigated how a mutation in the Pogz gene impacted on brain development in mice and specifically on the functioning of the cerebellum.

The findings concluded that the mutation led to hyper-social behavior, learning disabilities while also impacting on the physical development of the mice. Upon further investigation, the research team also observed that the genetic mutation affected the proliferation of cells in the brain and inhibited the production of new neurons. The researchers believe that this may be a reason why some children with the mutation exhibit smaller than average head sizes.

While there are presently no effective medicines for the main symptoms of autism, the senior author believes that this research could be instrumental in developing drugs to directly changing the neural processes in the cerebellum. Previous research conducted by the lab showed that specific chemical agents could change the active functioning of the cerebellum. Ongoing research will therefore be focused on whether similar approaches could lead the lab mice to change their behavior and reverse the effects connected with the mutation.

https://www.nature.com/articles/s41467-020-19577-0

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