The Story of Rett Syndrome: From Clinic to Neurobiology

Maria Chahrour, Huda Y. Zoghbi

Research output: Contribution to journalReview article

770 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)422-437
Number of pages16
JournalNeuron
Volume56
Issue number3
DOIs
StatePublished - Nov 8 2007

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Rett Syndrome
Neurobiology
Methyl-CpG-Binding Protein 2
Neurological Models
RNA Splicing
Phenotype
Chromatin Assembly and Disassembly
Mutation
Genes

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

The Story of Rett Syndrome : From Clinic to Neurobiology. / Chahrour, Maria; Zoghbi, Huda Y.

In: Neuron, Vol. 56, No. 3, 08.11.2007, p. 422-437.

Research output: Contribution to journalReview article

Chahrour, Maria ; Zoghbi, Huda Y. / The Story of Rett Syndrome : From Clinic to Neurobiology. In: Neuron. 2007 ; Vol. 56, No. 3. pp. 422-437.
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