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Nature 429, 457-463 (27 May 2004) | doi:10.1038/nature02625

Epigenetics in human disease and prospects for epigenetic therapy

Gerda Egger1, Gangning Liang1, Ana Aparicio1 and Peter A. Jones1

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.

  1. Departments of Biochemistry and Molecular Biology and Urology, USC/Norris Comprehensive Cancer Center, Keck School of Medicine of the University of Southern California, 1441 Eastlake Avenue, Room 8302L, Los Angeles, California 90089-9181, USA
    Email: jones_p@ccnt.hsc.usc.edu

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