Epigenetic aberration of gene expression in endometriosis

Izawa M, Masao Izawa, Fuminori Taniguchi, Taniguchi F, Terakawa N, Naoki Terakawa, Tasuku Harada, Harada T
Frontiers in bioscience (Elite edition) · 2013 · vol. E5(3) , pp. 900–910 · doi:10.2741/e669 · PMID:23747905 · W2030333317
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This review summarizes studies using epigenetic approaches, focusing on DNA methylation and advanced technologies, to investigate gene expression aberrations in endometriosis, including insights from twin studies.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 · read from full text ⓘ

This paper is a review focused on epigenetic aberrations in gene expression in endometriosis, emphasizing DNA methylation as a key epigenetic mechanism and summarizing the authors’ prior studies alongside recent work from other groups. It describes endometriosis as an estrogen-dependent inflammatory disease in which an up-regulation of the aromatase gene occurs in endometriotic tissues, and it argues that endometriosis is associated with epigenetic disorders affecting gene transcription states. The review highlights evidence from genome-wide methylation profiling and genome-wide association studies, includes discussion of monozygotic twin research related to environmental influences, and refers to a newer concept of genome-wide DNA methylation. As a review, it does not present new experimental results of its own and primarily synthesizes existing findings. This paper is centrally about endometriosis — it reviews how epigenetic (especially DNA methylation–related) aberrations contribute to dysregulated gene expression in endometriotic disease.

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Abstract

Endometriosis is an estrogen-dependent inflammatory disease. In endometriotic tissues, a high-estrogen environment associated with up-regulation of the aromatase gene has been well documented. There is accumulating evidence supporting a concept that endometriosis is a disease associated with an epigenetic disorder. Epigenetics is one of the most expanding fields in the current biomedical research. The word 'epigenetics' refers to the study of mitotically and/or meiotically heritable changes in gene expression that occur without changes in the DNA sequence. The disruption of such changes (epigenetic aberration or disorder) underlies a wide variety of pathologies. Epigenetic regulation includes DNA methylation and histone modifications, and is responsible for a number of gene transcription associated with chromatin modifications that distinguish the states of diseases. In this review, we summarized our studies as well as recent studies from other laboratories using an epigenetic approach focused on DNA methylation. We also summarized studies using advanced technologies including Genome-Wide (GW) methylation profiling analysis and GW Association Study (GWAS). We reviewed recent monozygotic twins studies in relation to environmental factors since they may provide insight into the epigenetic background of endometriosis. Finally, we referred to a new concept of GW DNA methylation.
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Abstract

Endometriosis is an estrogen-dependent inflammatory disease. In endometriotic tissues, a highestrogen environment associated with up-regulation of the aromatase gene has been well documented. There is accumulating evidence supporting a concept that endometriosis is a disease associated with an epigenetic disorder. Epigenetics is one of the most expanding fields in the current biomedical research. The word ‘epigenetics’ refers to the study of mitotically and/or meiotically heritable changes in gene expression that occur without changes in the DNA sequence. The disruption of such changes (epigenetic aberration or disorder) underlies a wide variety of pathologies. Epigenetic regulation includes DNA methylation and histone modifications, and is responsible for a number of gene transcription associated with chromatin modifications that distinguish the states of diseases. In this review, we summarized our studies as well as recent studies from other laboratories using an epigenetic approach focused on DNA methylation. We also summarized studies using advanced technologies including Genome-Wide (GW) methylation profiling analysis and GW Association Study (GWAS). We reviewed recent monozygotic twins studies in relation to environmental factors since they may provide insight into the epigenetic background of endometriosis. Finally, we referred to a new concept of GW DNA methylation.

Keywords

- Aberrant Gene Expression - Epigenetic Disorder - Aberrant DNA Methylation - Endometriosis - Review

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Epigenesis, Genetic Gene Expression DNA Methylation Endometriosis Estrogens Estrogens Female Genome-Wide Association Study Humans

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

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Cited by (34)

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