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Aberrant DNA methylation status of endometriosis: Epigenetics as the pathogenesis, biomarker and therapeutic target
Author(s) -
Nasu Kaei,
Kawano Yukie,
Tsukamoto Yoshiyuki,
Takano Masayuki,
Takai Noriyuki,
Li Haili,
Furukawa Yuichi,
Abe Wakana,
Moriyama Masatsugu,
Narahara Hisashi
Publication year - 2011
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/j.1447-0756.2011.01663.x
Subject(s) - dna methylation , endometriosis , epigenetics , methyltransferase , aromatase , cancer research , medicine , cpg site , methylation , pathogenesis , biology , bioinformatics , genetics , cancer , gene expression , gene , breast cancer
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.