Document Detail

The story of Rett syndrome: from clinic to neurobiology.
MedLine Citation:
PMID:  17988628     Owner:  NLM     Status:  MEDLINE    
The postnatal neurodevelopmental disorder Rett syndrome (RTT) is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MeCP2), a transcriptional repressor involved in chromatin remodeling and the modulation of RNA splicing. MECP2 aberrations result in a constellation of neuropsychiatric abnormalities, whereby both loss of function and gain in MECP2 dosage lead to similar neurological phenotypes. Recent studies demonstrate disease reversibility in RTT mouse models, suggesting that the neurological defects in MECP2 disorders are not permanent. To investigate the potential for restoring neuronal function in RTT patients, it is essential to identify MeCP2 targets or modifiers of the phenotype that can be therapeutically modulated. Moreover, deciphering the molecular underpinnings of RTT is likely to contribute to the understanding of the pathogenesis of a broader class of neuropsychiatric disorders.
Maria Chahrour; Huda Y Zoghbi
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Neuron     Volume:  56     ISSN:  0896-6273     ISO Abbreviation:  Neuron     Publication Date:  2007 Nov 
Date Detail:
Created Date:  2007-11-08     Completed Date:  2008-01-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8809320     Medline TA:  Neuron     Country:  United States    
Other Details:
Languages:  eng     Pagination:  422-37     Citation Subset:  IM    
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
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MeSH Terms
Brain / metabolism*,  physiopathology
Child, Preschool
Disease Models, Animal
Gene Expression Regulation / genetics
Genetic Predisposition to Disease / genetics*
Methyl-CpG-Binding Protein 2 / genetics*
Mutation / genetics*
Rett Syndrome / genetics*,  metabolism*,  physiopathology
X Chromosome Inactivation / genetics
Grant Support
Reg. No./Substance:
0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2

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