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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.
Financial & competing interests disclosure
The research described in this article was partially supported by the Ministry of Education, Science, Sports and Culture (MEXT), Grants-in-Aid (KAKENHI) for Scientific Research (A) and (B) (#23390272; to T Kubota), for Exploratory Research (#25670473; to T Kubota), for Young Scientists (B) (#s23791156 and 25860852; to K Miyake), Grant-in-Aid for Scientific Research on Innovative Areas ‘Genome Science‘ (to T Kubota) and for Scientific Research (C) (#23591491; to T Hirasawa). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
No writing assistance was utilized in the production of this manuscript.