DNA methylation in health and disease

Nat Rev Genet. 2000 Oct;1(1):11-9. doi: 10.1038/35049533.


DNA methylation has recently moved to centre stage in the aetiology of human neurodevelopmental syndromes such as the fragile X, ICF and Rett syndromes. These diseases result from the misregulation of genes that occurs with the loss of appropriate epigenetic controls during neuronal development. Recent advances have connected DNA methylation to chromatin-remodelling enzymes, and understanding this link will be central to the design of new therapeutic tools.

Publication types

  • Review

MeSH terms

  • DNA Methylation*
  • Genetic Diseases, Inborn / genetics*
  • Genome
  • Humans