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Experience-Dependent Brain Changes in Angelman Syndrome

  May, 21 2009 9:28
your information resource in human molecular genetics

Sensory-experience dependent modification of visual areas in the brain are disrupted in a mouse model of Angelman syndrome (AS), reports a paper published online in Nature Neuroscience.

Angelman syndrome (AS) is a hereditary mental retardation, caused by mutations or deletions in the maternally inherited allele of the UBE3A gene. Normally, visual experience guides the development of brain circuitry in the visual cortex of the brain. Benjamin Philpot and colleagues report that AS mice deficient in UBE3A do not show this sensory-experience dependent maturation process. This experience-dependent plasticity however was restored by sensory deprivation (rearing the mice in a dark environment).

This work points to potential mechanisms that may underlie abnormalities in brain development in human AS, as well as other forms of mental retardation, such as Rett syndrome and Fragile X syndrome.

Author contacts:

Benjamin Philpot (University of North Carolina, Chapel Hill, NC, USA)
E-mail: bphilpot@med.unc.edu

Michael Ehlers (Duke University Medical Center, Durham, NC, USA)
E-mail: ehlers@neuro.duke.edu

Abstract available online.

(C) Nature Neuroscience press release.

Message posted by: Trevor M. D'Souza

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