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Epigenetics in human disease and prospects for epigenetic therapy

Author

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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)

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.

Suggested Citation

  • Gerda Egger & Gangning Liang & Ana Aparicio & Peter A. Jones, 2004. "Epigenetics in human disease and prospects for epigenetic therapy," Nature, Nature, vol. 429(6990), pages 457-463, May.
    • Handle: RePEc:nat:nature:v:429:y:2004:i:6990:d:10.1038_nature02625
    DOI: 10.1038/nature02625
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    Cited by:

    1. Bo Zhang & Wei Zhu & Ping Yang & Tao Liu & Mei Jiang & Zhi-Ni He & Shi-Xin Zhang & Wei-Qing Chen & Wen Chen, 2011. "Cigarette Smoking and p16INK4α Gene Promoter Hypermethylation in Non-Small Cell Lung Carcinoma Patients: A Meta-Analysis," PLOS ONE, Public Library of Science, vol. 6(12), pages 1-9, December.
    2. Xuefeng Wang & Shuo Zhang & Yao Wu & Xuemei Yang, 2021. "Revealing potential drug-disease-gene association patterns for precision medicine," Scientometrics, Springer;Akadémiai Kiadó, vol. 126(5), pages 3723-3748, May.
    3. Sherrie Lessans & Susan G. Dorsey, 2013. "The Role for Epigenetic Modifications in Pain and Analgesia Response," Nursing Research and Practice, Hindawi, vol. 2013, pages 1-6, October.
    4. Ko Sato & Amarjeet Kumar & Keisuke Hamada & Chikako Okada & Asako Oguni & Ayumi Machiyama & Shun Sakuraba & Tomohiro Nishizawa & Osamu Nureki & Hidetoshi Kono & Kazuhiro Ogata & Toru Sengoku, 2021. "Structural basis of the regulation of the normal and oncogenic methylation of nucleosomal histone H3 Lys36 by NSD2," Nature Communications, Nature, vol. 12(1), pages 1-10, December.
    5. William A. Toscano & Kristen P. Oehlke, 2005. "Systems Biology: New Approaches to Old Environmental Health Problems," IJERPH, MDPI, vol. 2(1), pages 1-6, April.
    6. David V. McLeod & Geoff Wild & Francisco Úbeda, 2021. "Epigenetic memories and the evolution of infectious diseases," Nature Communications, Nature, vol. 12(1), pages 1-13, December.
    7. Arwa Bin Raies & Hicham Mansour & Roberto Incitti & Vladimir B Bajic, 2013. "Combining Position Weight Matrices and Document-Term Matrix for Efficient Extraction of Associations of Methylated Genes and Diseases from Free Text," PLOS ONE, Public Library of Science, vol. 8(10), pages 1-1, October.
    8. Veruscka Leso & Ilaria Vetrani & Ilaria Della Volpe & Caterina Nocera & Ivo Iavicoli, 2019. "Welding Fume Exposure and Epigenetic Alterations: A Systematic Review," IJERPH, MDPI, vol. 16(10), pages 1-17, May.

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