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Single gene may cause Angelman's syndrome

CHAPEL HILL, N.C., May 11 (UPI) -- U.S. scientists say impaired brain plasticity caused by a single gene might be responsible for learning disabilities associated with Angelman's syndrome.

The researchers at the University of North Carolina at Chapel Hill and Duke University said Angelman's syndrome -- often misdiagnosed as cerebral palsy or autism -- includes characteristics such as intellectual and developmental delay, severe mental retardation, lack of speech, seizures and motor and balance disorders.

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The study identified the deficiency of a specific gene -- UBE3A, which plays a role in brain plasticity -- as a cause of the neurogenetic disorder.

"If brain cells were unable to modify their connections with new experiences, then we would have difficulty learning," said Dr. Michael Ehlers, a professor of neurobiology at Duke and co-senior author of the study. "We have found that a specific form of brain plasticity is severely impaired in a mouse model of Angelman syndrome and this prevents brain circuits from encoding information provided by sensory experiences.

"In addition," he said, "an exciting possibility is that the defect we have found may be a more general feature of other disorders of brain development, including autism."

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The study that included UNC Professors Benjamin Philpot and Richard Weinberg, as well as researchers Koji Yashiro, Thorfinn Riday, Adam Roberts, Danilo Bernardo, Rohit Prakash and Kathryn Condon appears in the journal Nature Neuroscience.

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