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Are autism drugs on the horizon?

Written by | 18 Jan 2021 | Mental Health

Researchers at the Hebrew University of Jerusalem have identified a genetic mutation associated with autism, offering fresh hope for effective therapeutics.  

Genetic mutations have a strong effect on the development of autism and other neurodevelopmental disorders. This has led scientists to focus attention on the commonalities behind those mutations and how they impact on the functioning of the brain.

The new study conducted by Professor Sagiv Shifman 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 understanding of the relation between the cerebellum and autism and even lead to new therapies in the future.

The study tested one of the most prominent genes associated with autism – the Pogz gene, linked to developmental disorders and overly friendly behaviour 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.

They concluded that the mutation led to hyper-social behaviour and learning disabilities while also impacting on physical development. They also observed that the genetic mutation affected the proliferation of cells in the brain and inhibited the production of new neurons.

While there are currently no effective medicines for the main symptoms of autism, Professor Yarom of the Edmond & Lily Safra Center for Brain Sciences at Hebrew University, believes that this research could be instrumental in developing drugs to directly change the neural processes in the cerebellum. His previous work has shown that specific chemical agents could change the active functioning of the cerebellum.

The goal now is to determine whether similar approaches could lead the lab mice to change their behaviour and reverse the effects connected with the mutation.

‘Our work with this specific gene that we know is connected to autism and significantly impacts on the functioning of the brain provide us with considerable hope that we will be able to develop medicines to assist children with autism,’ Professor Shifman said.

Professor Yarom added: ‘Enhanced understanding of the neurological processes behind autism opens up hope-filled possibilities for new treatments.”

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