Reversibility of functional deficits in experimental models of Rett syndrome

Cobb, S., Guy, J. and Bird, A. (2010) Reversibility of functional deficits in experimental models of Rett syndrome. Biochemical Society Transactions, 38(2), pp. 498-506. (doi:10.1042/BST0380498)

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Publisher's URL: http://dx.doi.org/10.1042/BST0380498

Abstract

Mutations in the X-linked MECP2 gene are the primary cause of the severe autism spectrum disorder RTT (Rett syndrome). Deletion of Mecp2 in mice recapitulates many of the overt neurological features seen in humans, and the delayed onset of symptoms is accompanied by deficits in neuronal morphology and synaptic physiology. Recent evidence suggests that reactivation of endogenous Mecp2 in young and adult mice can reverse aspects of RTT-like pathology. In the current perspective, we discuss these findings as well as other genetic, pharmacological and environmental interventions that attempt phenotypic rescue in RTT. We believe these studies provide valuable insights into the tractability of RTT and related conditions and are useful pointers for the development of future therapeutic strategies.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Cobb, Dr Stuart
Authors: Cobb, S., Guy, J., and Bird, A.
Subjects:Q Science > QH Natural history > QH345 Biochemistry
College/School:College of Medical Veterinary and Life Sciences > Institute of Molecular Cell and Systems Biology
Journal Name:Biochemical Society Transactions
Publisher:Portland Press Ltd.
ISSN:0300-5127
ISSN (Online):1470-8752
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Project CodeAward NoProject NamePrincipal InvestigatorFunder's NameFunder RefLead Dept
480301Reversibility and mapping of Rett Syndrome-like phenotypes in the mouse brainStuart CobbMedical Research Council (MRC)G0800401/86343RI NEUROSCIENCE & PSYCHOLOGY
532161Improving the functioning of neurons in Rett Syndrome - linking basic neurobiology and therapeutic strategiesMark BaileyRett Syndrome Association Scotland (RSAS-WEST)UNSPECIFIEDLS - BIOMOLECULAR SCIENCE