An exciting story in HealthDay News by Krisha McCoy on Monday, June 25, 2007 caught my eye immediately. Scientists have actually found a way to reverse the symptoms of autism and mental retardation. Ok, it was only in mice, but isn’t that usually the first step. It didn’t even involve any radical surgery, just inhibiting a certain enzyme.

The enzyme that was inhibited affects the number, size, and shape of the connections between neurons and the brain and is called p21-activated kinase, or PAK. Stopping PAK's activity actually reversed the brain abnormalities in the mice with a FXS mutated X chromosome gene, which can cause mild learning disabilities to severe autism.

“The abnormalities, which were seen in the FXS mice were similar to those seen in FXS patients, including hyperactivity, purposelessness, repetitive movements, attention deficits, and difficulty with learning and memory.” These abnormalities improved when PAK’s activity was stopped. A mutated X chromosome gene, which is called the fragile X mental retardation 1 (FMR1) gene, is tied to FXS.

Remarkably, the behavioral abnormalities associated with these disorders were also corrected in the process of inhibiting PAK because the electrical communication between neurons in the brains of the FXS mice was restored, according to Susumu Tonegawa, 1987 Nobel laureate and Picower Professor of Biology and Neuroscience. He also indicated that chemical compounds are currently known to inhibit PAK’s activity, and that should be useful in developing treatments for FXS.

Just think of the implications here in having the behaviors typically associated with autism actually stop. This could mean an end to those repetitive behaviors like head banging, rocking, or picking at objects or self.

Reseachers waited a few weeks after the appearance of symptoms in the mice to begin treatment and still saw excellent results. They feel this implies that treatment may be effective in children with pronounced symptoms.

These findings were reported in the June 25-29 online early edition of the Proceedings of the National Academy of Sciences.

Related reading on Autism.
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What is Institutional Autism?
What Kind of World Do You Want…Autism Speaks
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