A new study shows that mutation in a risk gene for autism interfere with the normal function of the brain’s cerebellum.

19 November, 2020
Ben and Suli

POGZ is an autism spectrum disorder risk gene. How POGZ mutations result in ASD is unclear and animal models are lacking. Here, the authors generate a brain specific Pogz deficient mouse presenting ASD-like behaviour and show the effects of Pogz deficiency in the cerebellum. 

Around 1% of children are being diagnosed with autism spectrum disorder that involves social, communication, and behavioral challenges. It is still not clear what type of changes in the brain are responsible for the social difficulties.

Now, a new study led by Reut Suliman-Lavie and Ben Title shows that a mutation in a gene implicated in autism has a pronounced effect on brain development and the function of the cerebellum. The researchers mutated the gene specifically in the brain and found that it affects the social and cognitive behavior in mice in a similar way to what was observed in humans with mutations in this gene. They further showed that this gene regulates the activity of many other genes and is important for the proper activity of brain cells in the cerebellum. The finding, reported in Nature Communications, provides a new understanding of how mutations in a single gene lead to autism. While currently there are no effective drugs to treat autism, this discovery could help finding new ways for developing drugs to treat autism by modulating the neural circuits of the cerebellum.

Read the paper published in Nature Communications