The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis

Curr Opin Neurobiol. 2019 Dec:59:180-188. doi: 10.1016/j.conb.2019.08.001. Epub 2019 Sep 19.

Abstract

Rett syndrome (RTT) is one of the most common causes of intellectual and developmental disabilities in girls, and is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Here we will review our current understanding of RTT, the landscape of pathogenic mutations and function of MeCP2, and culminate with recent advances elucidating the distinct DNA methylation landscape in the brain that may explain why disease symptoms are delayed and selective to the nervous system.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Brain
  • Female
  • Humans
  • Methyl-CpG-Binding Protein 2
  • Methylation
  • Mutation
  • Neurons
  • Rett Syndrome*

Substances

  • Methyl-CpG-Binding Protein 2