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Bioscience-Medicine

San Antonio Researchers Conduct Breakthrough Study In Treating Autism

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Minjee Jou, illustrator
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Researchers in San Antonio have made a breakthrough in autism research using gene editing.

In a study conducted at UT Health San Antonio, researchers successfully reduced exaggerated repetitive behaviors in mice by "cutting" the gene at a location they believe causes the habitual actions. The gene targeted in this research is associated with Fragile X Syndrome, which is the most common known cause of autism worldwide.

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Credit Bonnie Petrie / Texas Public Radio
University of Texas Health San Antonio researcher Hye Young Lee in the lab.

Dr. Hye Young Lee led the study. She is an assistant professor in the department of cellular and integrative physiology at UT Health. Lee said her team’s research began with mice that were exhibiting exaggerated repetitive behaviors, like digging to bury marbles in their bedding and jumping.

 

Lee said the team injected an enzyme called Cas9 into the area of the brain associated with formation of habits. They used nanoparticle carriers to target a gene receptor called metabotropic glutamate receptor 5, or mGluR5. The enzyme acts like scissors, cutting the connection causing excessive activity.

As a result, the rodents’ digging behavior was reduced by 30 percent. The jumping was reduced by 70 percent.

Lee says this study is a breakthrough.

“This is the first time in the world that we were able to see that gene editing can actually reduce the symptoms of autism," she said.

This is also exciting for those who work with patients who have autism. Dr. Patricia Del Angel, chief medical officer atAutism Community Networkin San Antonio, said repetitive behaviors — including hand and arm flapping, spinning, jumping, shredding, and self-injurious behaviors like hair pulling and picking at skin — can interfere with activities of daily living and learning, in addition to bothering the people around them.

“(This) new research is exhilarating because it gives us great hope that in the future, we could ameliorate the signs and symptoms that cause greater impairment in children with autism,” Del Angel said.

 
Bonnie Petrie can be reached at bonnie@tpr.org or on Twitter @kbonniepetrie