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CALGARY, Alberta — In the United States, one in every 54 children is diagnosed with autism spectrum disorder. One of the leading genetic causes of this disorder is the Fragile X syndrome (FXS). Researchers in Canada say they may have found a daily treatment for this disorder, repairing its effect on the brain.

Tests on mice reveal the treatment, a daily injection, restores special proteins needed for the brain to properly communicate. The potential therapy is able to reduce hyperactivity in a patient for nearly a day.

FXS causes intellectual disabilities and hyperactive behavior, with more cases affecting males than females. Patients with FXS are missing what’s known as the fragile X mental retardation protein (FMRP). The protein is vital to the brain, developing synapses between the billions of neurons there.

“If I had to make an analogy, it might be akin to insulin and diabetes. With FXS, individuals are missing this protein – let’s try putting it back in,” says study author Dr. Raymond W. Turner in a release. Just 30 minutes after giving the mice an injection, Turner notes that the protein successfully spreads throughout the brain and cells begin to function normally.

“We did one injection and we tested for it one day later, and three key proteins that are known to be in Fragile X were still at restored normal levels,” adds co-author Dr. Xiaoqin Zhan.

Breaking down the treatment to treat Fragile X

The study authors say previous attempts to treat FXS have tried to inject mice with an entire FMRP molecule, but they failed. Turner and his team used smaller pieces of the protein that are able to pass through the blood and into the brain.

“It’s not a full FMRP molecule at all but rather a fragment with important structural features and functional components,” explains co-author Dr. Ning Cheng. Those fragments still have the ability to control the balance of other proteins and channels of communication in the brain.

Drug researchers usually hope their treatment will be helpful for one specific type of cell. Turner’s team adds, by using FMRP, they hope this will treat a great variety of cells.

“FMRP is expressed in just about every cell in the brain, so an all-encompassing wide-based application is what you want,” Turner says.

According to the Centers for Disease Control and Prevention, FXS is believed to affect one in 7,000 men and one in 11,000 women. Turner’s study is now seeing how other fragments of FMRP work at treating more cognitive disorders tied to Fragile X.

The study appears in the journal Nature Communications.

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About Chris Melore

Chris Melore has been a writer, researcher, editor, and producer in the New York-area since 2006. He won a local Emmy award for his work in sports television in 2011.

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