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Preclinical work shows how one gene causes severe mental retardation
Date:5/10/2009

iately strengthen or weaken in the cortex, an area of the brain important for cognitive abilities. Angelman syndrome is one among a small family of single gene, autism-related, neurodevelopmental disorders. Children with the condition appear to respond normally to stimuli during their first year, but around 12-18 months, they start missing milestones of cognitive development and language, typically learning only a 2-3 words over their lifetime.

"When we have experiences, connections between brain cells are modified so that we can learn," said Ben Philpot, Ph.D., a University of North Carolina professor in Cell and Molecular Physiology and co-senior author of the study. "By strengthening and weakening appropriate connections between brain cells, a process termed synaptic plasticity, we are able to constantly learn and adapt to an ever-changing environment."

"It is difficult to study how experiences lead to changes in the brain in models of mental retardation," said Koji Yashiro, Ph.D., a former University of North Carolina graduate student and lead author of the study. "Instead of studying a complex learning model, we studied how connections between brain cells change in visual areas of mice exposed to light or kept in darkness. This approach revealed that brain cells in normal mice can modify their connections in response to changes in visual experiences, while the brain cells in Angelman syndrome mice could not."

The inability of brain cells to encode information from experiences in the Angelman syndrome model suggested that this is the basis for the profound learning difficulties in these patients.

The scientists didn't expect to find that the plasticity of the cellular connections could be restored in visual areas of the brain after brief periods of visual deprivation.

"By showing that brain plasticity can be restored in Angelman syndrome model mice, our findings suggest that brain cells in Angelman syndrome pati
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Contact: Mary Jane Gore
mary.gore@duke.edu
919-660-1309
Duke University Medical Center
Source:Eurekalert

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