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Possible Genetic Basis for Autism Discovered

Possible Genetic Basis for Autism Discovered

October 7, 2016

Medical Research, Press Releases

Ben-Gurion University of the Negev (BGU) researchers are a step closer to understanding the genetic basis of autism, which they hope will lead to earlier diagnosis of what is rapidly becoming the most prevalent developmental disorder worldwide.

In the study published in Behavior Genetics, the researchers examined the sequences of more than 650 genes associated with autism and discovered characteristics that distinguish them from other brain-specific genes and genes of other diseases.

idan-menashe

Dr. Idan Menashe

According to the U.S. Centers for Disease Control and Prevention (CDC), one in 50 children in the United States is diagnosed with autism, a neurodevelopmental disorder which can severely impair communication and social skills. These figures have skyrocketed since the 1980s, when only one in 5,000 were diagnosed with an autism spectrum disorder (ASD).

“We are now a step closer to understanding the genes associated with autism and understanding the biological process involved in the disease,” says Dr. Idan Menashe, who along with his colleagues, Erez Tsur and Prof. Michael Friger, is a member of the BGU Department of Public Health in the Faculty of Health Sciences. Dr. Menashe and Tsur are also members of BGU’s Zlotowski Center for Neuroscience.

“This study gives us a tool to help identify additional autism genes using the genetic signature we found. From there, we hope to be able to diagnose autism earlier,” the researchers say.

One particularly distinct characteristic of autism genes the researchers found is their exceptional genomic length, which is longer than other brain-expressed genes of closely related diseases such as Alzheimer’s and schizophrenia.

Additionally, when the researchers studied families that have a child diagnosed with ASD, they found a unique genomic signature shaped by negative selection, an evolutionary process that purifies and removes disruptive mutations from genes and prevents them from replicating over generations.

Dr. Menashe and his colleagues also searched for evidence of positive selection in these genes, which would cause an increase in frequency until they are a factor in the population. “While this kind of mechanism could explain the prevalence of autism in the human population, we found no indications of positive selection acting on autism genes,” he says. “Thus, while autism susceptibility mutations are in the human genome, they only present as an autism disorder when combined with other genetic, non-genetic or environmental factors.

“Our findings suggest that ASD genes have evolved under complex evolutionary forces, which have left a unique signature that can be used to identify new ASD candidate genes,” the researchers add.

DOI: 10.1007/s10519-016-9804-4

ABOUT AMERICANS FOR BEN-GURION UNIVERSITY

By supporting a world-class academic institution that not only nurtures the Negev, but also shares its expertise locally and globally, Americans for Ben-Gurion University engages a community of Americans who are committed to improving the world. David Ben-Gurion envisioned that Israel’s future would be forged in the Negev. The cutting-edge research carried out at Ben-Gurion University drives that vision by sustaining a desert Silicon Valley, with the “Stanford of the Negev” at its center. The Americans for Ben-Gurion University movement supports a 21st century unifying vision for Israel by rallying around BGU’s remarkable work and role as an apolitical beacon of light in the Negev desert.

About Ben-Gurion University of the Negev

Ben-Gurion University of the Negev embraces the endless potential we have as individuals and as a commonality to adapt and to thrive in changing environments. Inspired by our location in the desert, we aim to discover, to create, and to develop solutions to dynamic challenges, to pose questions that have yet to be asked, and to push beyond the boundaries of the commonly accepted and possible.

We are proud to be a central force for inclusion, diversity and innovation in Israel, and we strive to extend the Negev’s potential and our entrepreneurial spirit throughout the world. For example, the multi-disciplinary School for Sustainability and Climate Change at BGU leverages over 50 years of expertise on living and thriving in the desert into scalable solutions for people everywhere.

BGU at a glance:  

20,000 students | 800 senior faculty | 3 campuses | 6 faculties: humanities & social sciences, health sciences, engineering sciences, natural sciences, business & management, and desert research.

 

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