Researchers from Hebrew University Identify Genetic Mutation Which Could Aid Autism Therapy Efforts

Could this be the breakthrough everyone has been searching for?

Scientists from the Hebrew University in Israel have identified a specific gene mutation that is associated with autism and discovered that it plays a key role in the brain development of mice. The research indicates that these findings could be integral in helping to create and develop drugs to change the process inside the brain and help with the main symptoms of autism.

DNA molecule, computer illustration.

The team of researchers from Hebrew University includes Ph.D. students Ben Title, Reut Suliman-Lavie, Professor Yosef Yarom, and was led by Professor Sagiv Shifman. The research team included also included a variety of other scientists from laboratories in Taiwan, Japan, and the US.

The research discovered that genes associated with autism tend to be part of the regulation of other genes and in the cortex, striatum, and cerebellum areas of the brain. Recent findings have shown that the cerebellum could contribute to the development of many cognitive and social functions, as well as being responsible for motor function.

The team’s findings were recently published in Nature Communications, the peer-reviewed scientific journal which has been published by Nature Research for over ten years. The goal of the study was to better understand the relationship between autism and the cerebellum.

“It’s not that we’ve chosen one gene randomly. First of all, there’s a known risk factor for autism today, and it belongs to a larger family of genes with similar functions that are being found relatively recently to be mutated in multiple individuals with autism,” Professor Shifman tells NoCamels in a phone interview. This gene, he says, seems to affect a particular region of the brain, which is the cerebellum.

“I can summarize it by saying that many of the symptoms we see in humans with mutations in this particular gene also occurred in the mouse. So, it became a relatively good model for this problem,” he says.

While it’s too soon to make any definitive claims or start developing any drugs, it is a positive step forward in helping to identify the cause of autism as well as potential treatment options.