Epigenetics in human disease and prospects for epigenetic therapy

Nature. 2004 May 27;429(6990):457-63. doi: 10.1038/nature02625.


Epigenetic mechanisms, which involve DNA and histone modifications, result in the heritable silencing of genes without a change in their coding sequence. The study of human disease has focused on genetic mechanisms, but disruption of the balance of epigenetic networks can cause several major pathologies, including cancer, syndromes involving chromosomal instabilities, and mental retardation. The development of new diagnostic tools might reveal other diseases that are caused by epigenetic alterations. Great potential lies in the development of 'epigenetic therapies'--several inhibitors of enzymes controlling epigenetic modifications, specifically DNA methyltransferases and histone deacetylases, have shown promising anti-tumorigenic effects for some malignancies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • DNA Methylation
  • Disease*
  • Epigenesis, Genetic / genetics*
  • Gene Silencing
  • Genetic Therapy / trends*
  • Genetics, Medical / trends*
  • Humans