Epigenetics in human disease and prospects for epigenetic therapy

Gerda Egger, Gangning Liang, Ana Aparicio and Peter A. Jones ()
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Gerda Egger: USC/Norris Comprehensive Cancer Center, Keck School of Medicine of the University of Southern California
Gangning Liang: USC/Norris Comprehensive Cancer Center, Keck School of Medicine of the University of Southern California
Ana Aparicio: USC/Norris Comprehensive Cancer Center, Keck School of Medicine of the University of Southern California
Peter A. Jones: USC/Norris Comprehensive Cancer Center, Keck School of Medicine of the University of Southern California

Nature, 2004, vol. 429, issue 6990, 457-463

Abstract: Abstract 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.

Date: 2004
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DOI: 10.1038/nature02625

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