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Originally published in Science Express on 8 February 2007
Science 23 February 2007:
Vol. 315. no. 5815, pp. 1143 - 1147
DOI: 10.1126/science.1138389
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Reports

Reversal of Neurological Defects in a Mouse Model of Rett Syndrome

Jacky Guy,1 Jian Gan,2 Jim Selfridge,1 Stuart Cobb,2 Adrian Bird1*

Rett syndrome is an autism spectrum disorder caused by mosaic expression of mutant copies of the X-linked MECP2 gene in neurons. However, neurons do not die, which suggests that this is not a neurodegenerative disorder. An important question for future therapeutic approaches to this and related disorders concerns phenotypic reversibility. Can viable but defective neurons be repaired, or is the damage done during development without normal MeCP2 irrevocable? Using a mouse model, we demonstrate robust phenotypic reversal, as activation of MeCP2 expression leads to striking loss of advanced neurological symptoms in both immature and mature adult animals.

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. E-mail: a.bird{at}ed.ac.uk

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