Aberrant DNA methylation status of endometriosis: Epigenetics as the pathogenesis, biomarker and therapeutic target

Kaei Nasu, Yukie Kawano, Yoshiyuki Tsukamoto, M. Takano, Masayuki Takano, Noriyuki Takai, Haili Li, Yuichi Furukawa, Wakana Abe, Masatsugu Moriyama, Hisashi Narahara
Journal of Obstetrics and Gynaecology Research · 2011 · vol. 37(7) , pp. 683–695 · doi:10.1111/j.1447-0756.2011.01663.x · PMID:21651673 · W2119046666
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This review examines aberrant DNA methylation and DNA methyltransferase expression in endometriosis, discussing their roles in pathogenesis and potential as diagnostic and therapeutic targets.

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Abstract

Endometriosis, a common, benign, estrogen-dependent disease affecting 3-10% of women of reproductive age, is characterized by the ectopic growth of endometrial tissue that is found primarily in the peritoneum, ovaries and rectovaginal septum. Recently, endometriosis has been alternatively described as an immune disease, a genetic disease and a disease caused by exposure to environmental factors, in addition to its usual description as a hormonal disease. In addition, accumulating evidence suggests that various epigenetic aberrations play definite roles in the pathogenesis of endometriosis. Epigenetic alterations reported to date in endometriosis include the genomic DNA methylation of progesterone receptor-B, E-cadherin, homeobox A10, estrogen receptor-β, steroidogenic factor-1 and aromatase. Aberrant expression of DNA methyltransferases, which attach a methyl group to the 5-carbon position of cytosine bases in the CpG island of the promoter region and silence the corresponding gene expression, has also been demonstrated in endometriosis. This review summarizes the recent studies on the aberrant DNA methylation status and aberrant expression of DNA methyltransferases, which regulate DNA methylation, in endometriosis. We also discuss the recent information on the diagnostic and therapeutic implications of epigenetic alterations occurring in endometriosis.

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Condition tags

endometriosis

MeSH descriptors

DNA Methylation DNA Methylation Endometriosis Endometriosis Epigenesis, Genetic Epigenesis, Genetic Molecular Targeted Therapy Animals Biomarkers Biomarkers Endometriosis Endometriosis Female Humans

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