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Submitted on December 4, 2006
Accepted on January 18, 2007
Reversal of Neurological Defects in a Mouse Model of Rett Syndrome
Jacky Guy 1, Jian Gan 2, Jim Selfridge 1, Stuart Cobb 2, Adrian Bird 1*
1 Wellcome Trust Centre for Cell Biology, Edinburgh University, The King's Buildings, Edinburgh EH9 3JR, UK. 2 Neuroscience and Biomedical Systems, Institute of Biomedical and Life Sciences, West Medical Building, University of Glasgow, Glasgow G12 8QQ, UK.
* To whom correspondence should be addressed.
Adrian Bird , E-mail: a.bird{at}ed.ac.uk
Rett syndrome is an autism spectrum disorder caused by mosaicexpression of mutant copies of the X-linked MECP2 gene in neurons.Neuronal death is absent, suggesting that this is not a neurodegenerativedisorder. An important question for future therapeutic approachesto this and related disorders concerns phenotypic reversibility.Can viable but defective neurons be repaired, or is the damagedone during development without normal MeCP2 irrevocable? Usinga mouse model, we demonstrate robust phenotypic reversal, asactivation of MeCP2 expression leads to striking loss of advancedneurological symptoms in both immature and mature adult animals.
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