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Researchers report success in treating autism spectrum disorder
Date:7/2/2012

CINCINNATIUsing a mouse model of autism, researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have successfully treated an autism spectrum disorder characterized by severe cognitive impairment.

The research team, led by Joe Clark, PhD, a professor of neurology at UC, reports its findings online July 2, 2012, in the Journal of Clinical Investigation, a publication of the American Society for Clinical Investigation.

The disorder, creatine transporter deficiency (CTD) is caused by a mutation in the creatine transporter protein that results in deficient energy metabolism in the brain. Linked to the X chromosome, CTD affects boys most severely; women are carriers and pass it on to their sons.

The brains of boys with CTD do not function normally, resulting in severe speech deficits, developmental delay, seizures and profound mental retardation. CTD is estimated to currently affect about 50,000 boys in the United States and is the second-most common cause of X-linked mental retardation after Fragile X syndrome.

Following CTD's discovery at UC in 2000, researchers at UC and Cincinnati Children's led by Clark discovered a method to treat it with cyclocreatinealso known as CincY, and pronounced cinci-whya creatine analogue originally developed as an adjunct to cancer treatment. They then treated genetically engineered mice as an animal model of the human disease.

"CincY successfully entered the brain and reversed the mental retardation-like symptoms in the mice, with benefits seen in nine weeks of treatment," says Clark, adding that no harmful effects to the mice were observed in the study. "Treated mice exhibited a profound improvement in cognitive abilities, including recognition of novel objects, spatial learning and memory."

As a repurposed drug (originally developed for another therapy), CincY has already been through part of the U.S. Food and Drug Administrat
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Contact: Keith Herrell
keith.herrell@uc.edu
513-558-4559
University of Cincinnati Academic Health Center
Source:Eurekalert

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