May 12, 2009

Amazing new research.....

The Angelman Syndrome Foundation has a long-standing history of funding new and innovative research studies. Two such ASF-funded studies, from the laboratories of Dr. Benjamin Philpot (University of North Carolina) and Dr. Michael Ehlers (Duke University) have recently released their findings about the development of the neocortex in the AS brain.

"A major goal of research in Angelman syndrome is to understand how the genetic loss of UBE3A alters the development of the neocortex, an area of the brain that is important for higher cognitive functions. A collaborative research effort from the labs of Ben Philpot, PhD, at the University of North Carolina and Mike Ehlers, MD, PhD, at Duke University has led to the exciting finding that brain circuit maturation is impaired in Angelman syndrome model mice deficient in Ube3a, but that brain plasticity can be restored through a behavioral manipulation. Normally brain cells wire together by following a genetic program of development that is modified through sensory experiences. This experience-dependent component of brain maturation provides a sensory feedback mechanism to ensure that the proper connections are maintained while inappropriate connections are eliminated. Although much of the developmental program for wiring the brain is intact in Angelman syndrome mice, these mice lack the experience-dependent component of brain maturation. This developmental defect is associated with profound impairments in the normal ability of synapses to strengthen and weaken in response to changes in neural activity. These results show that Ube3a is required for the proper experience-dependent maturation of the neocortex, and suggest that loss of neocortical plasticity contributes to the deficits associated with Angelman syndrome. Excitingly, the researchers demonstrated that normal brain plasticity can be restored by sensory deprivation. This indicates that brain cells in Angelman syndrome patients maintain the molecular machinery to express brain plasticity, and raises the remarkable possibility that this latent plasticity can be tapped through behavioral, pharmacological, or genetic manipulations to treat Angelman syndrome." Dr. Benjamin Philpot

The ASF is proud to continually support high-quality, cutting edge research.

Click here and here to read further information about Dr. Philpot’s and Dr. Ehler’s research study results.

If you can, please click on the Angelman icon to the right, below my profile, and donate towards this research.

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