A study conducted by Professor Sagiv Shifman from the Life Sciences Institute at the Hebrew University of Jerusalem [HUJI] and the Center for Autism Research has found that genes associated with autism tend to be involved in the regulation of other genes and 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 to new therapies in the future.
The research study published in Nature Communications tested one of the most prominent genes associated with autism, Pogz. Shifman chose this specific gene based on prior findings that links it to developmental disorders. In partnership with Professor Yosef Yarom from the Edmond & Lily Safra Center for Brain Sciences at HUJI and other laboratories around the world, the research team investigated how a mutation in the Pogz gene impacted brain development in mice, specifically the functioning of the cerebellum.
The findings concluded that the mutation led to hyper-social behavior and learning disabilities. The research team also observed that the genetic mutation affected the proliferation of cells in the brain and inhibited the production of new neurons.
While there are presently no effective medicines for the main symptoms of autism, Yarom believes that this research could be instrumental in developing drugs to directly change the neural processes in the cerebellum.
“Our work with this specific gene that we know is connected to autism and significantly impacts the functioning of the brain provide us with considerable hope that we will be able to develop medicines to assist children with autism,” Shifman said.
“Enhanced understanding of the neurological processes behind autism opens up hope-filled possibilities for new treatments,” Yoram added.
Source: Excerpt from a press release by the Hebrew University of Jerusalem
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