alexa Role of epigenetics in Rett syndrome.
Neurology

Neurology

Journal of Alzheimers Disease & Parkinsonism

Author(s): Kubota T, Miyake K, Hirasawa T, Kubota T, Miyake K, Hirasawa T

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Abstract Rett syndrome (RTT) is an X-linked neurodevelopmental disease caused by MECP2 mutations. The MeCP2 protein was originally thought to function as a transcription repressor by binding to methylated CpG dinucleotides, but is now also thought to be a transcription activator. Recent studies suggest that MeCP2 is not only being expressed in neurons, but also in glial cells, which suggests a new paradigm for understanding the pathogenesis of RTT. It has also been demonstrated that reintroduction of MeCP2 into behaviorally affected Mecp2-null mice after birth rescues neurological symptoms, which indicates that epigenetic failures in RTT are reversible. Therefore, RTT may well be seen as a model disease that can be potentially treated by taking advantage of the reversibility of epigenetic phenomena in various congenital neurodevelopmental diseases that were previously thought to be untreatable. This article was published in Epigenomics and referenced in Journal of Alzheimers Disease & Parkinsonism

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