Epigenetics in human disease and prospects for epigenetic therapy

Gerda Egger; Gangning Liang; Ana Aparicio; Peter A. Jones

doi:10.1038/nature02625

Epigenetics in human disease and prospects for epigenetic therapy

Gerda Egger, Gangning Liang, Ana Aparicio, Peter A. Jones

Research output: Contribution to journal › Review article › peer-review

2656 Scopus citations

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 antitumorigenic effects for some malignancies.

Original language	English (US)
Pages (from-to)	457-463
Number of pages	7
Journal	Nature
Volume	429
Issue number	6990
DOIs	https://doi.org/10.1038/nature02625
State	Published - May 27 2004
Externally published	Yes

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title = "Epigenetics in human disease and prospects for epigenetic therapy",

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 antitumorigenic effects for some malignancies.",

author = "Gerda Egger and Gangning Liang and Ana Aparicio and Jones, {Peter A.}",

note = "Funding Information: Acknowledgements We thank C. Nguyen for his help with the figures, and A. Yang and J. Rice for critical reading of the manuscript. This work was supported by the National Cancer Institute and the Max Kade Foundation.",

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AU - Aparicio, Ana

AU - Jones, Peter A.

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N2 - 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 antitumorigenic effects for some malignancies.

AB - 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 antitumorigenic effects for some malignancies.

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Epigenetics in human disease and prospects for epigenetic therapy

Abstract

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