Journal
EPIGENOMICS
Volume 5, Issue 5, Pages 583-592Publisher
FUTURE MEDICINE LTD
DOI: 10.2217/epi.13.54
Keywords
DNA methylation; epigenetics; iPSC; MeCP2; neurodevelopmental disease; Rett syndrome
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Funding
- Ministry of Education, Science, Sports and Culture (MEXT) [23390272, 25670473, s23791156, 25860852, 23591491]
- Grants-in-Aid for Scientific Research [23591491, 25670473, 23390272, 25860852] Funding Source: KAKEN
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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.
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