Role of epigenetics in Rett syndrome.

  title={Role of epigenetics in Rett syndrome.},
  author={Takeo Kubota and Kunio Miyake and Takae Hirasawa},
  volume={5 5},
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… CONTINUE READING