Cited by 67Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology ResearchAutism Spectrum Disorder Research

Reversibility of functional deficits in experimental models of Rett syndrome

Cobb, Stuart, Guy, Jacky, Bird, Adrian·2010·Biochemical Society Transactions

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.

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Crossref · 10.1042/bst0380498

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Authors
Cobb, S., Guy, J., & Bird, A.
Affiliations
  • University of Glasgow (GB)
  • Wellcome Centre for Cell Biology (GB)
Corresponding author
Cobb, Stuart
Venue
Biochemical Society Transactions
Published
2010-03-22
Volume
38
Issue
2
Pages
498-506
ISSN
  • 0300-5127 (ISSN-L)
  • 1470-8752
OpenAlex
W2087367348
Cited by
67
References
85
Citations by year
2026: 1 · 2025: 1 · 2024: 1 · 2023: 2 · 2022: 1 · 2021: 3 · 2020: 4 · 2019: 1 · 2016: 3 · 2015: 9 · 2014: 5 · 2013: 4 · 2012: 19
FWCI
1.22
Type
journal article
Language
en
Open access
closed
Locations
  • Biochemical Society Transactions (publishedVersion)
  • PubMed (publishedVersion)
Funders
Wellcome Trust
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords
Rett syndrome, MeCP2, X-linked disorders, autism spectrum disorder, mouse model, phenotypic rescue, neuronal morphology, synaptic dysfunction, treatment options
MeSH terms
Animals, Disease Models, Animal, Pharmaceutical Preparations, Environment, Humans, Mice, Transgenic, Genetic Therapy, Rett Syndrome, Recovery of Function, Mice, Methyl-CpG-Binding Protein 2

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