Israeli researchers make autism gene mutation breakthrough

Israeli researchers have shed new light on genetic mutations associated with autism which may help scientists come up with new and more effective therapies.

Professor Sagiv Shifman at Hebrew University found that genes associated with autism tend to be involved in the regulation of other genes and to operate mainly in three areas of the brain – the cortex, striatum, and cerebellum. The cerebellum is responsible for motor function, as well as social and cognitive functions.

Shifman worked with Prof Yosef Yarom focusing on the Pogz gene in a study published in Nature Communications. They hope it will improve understanding of the relation between the cerebellum and autism, and in time lead to new therapies.

They studied how the mutation led to hyper-social behaviour and learning disabilities in mice after it affected the proliferation of cells in the brain and inhibited the production of new neurons, which may explain why some children with the mutation exhibit smaller-than-average head sizes.

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