The emerging role of epigenetics and miRNAs in endometriosis

Abstract

Endometriosis is a complex and multifactoral disease with the evidence indicating that its pathophysiology is fractured and separated, often leading to it being referred to as the ‘disease of theories’. Here we present evidence on the involvement of epigenetic mechanisms, defined as heritable changes in gene expression brought about independently of nucleotide sequence, as a novel contributory factor and possible new avenue of investigation into endometriosis. A search of literature databases was carried out to identify publications relevant to the subject of endometriosis with particular focus on the field of epigenetics. Any publication on the involvement of epigenetic mechanisms in the etiology of endometriosis was then reviewed with a focus on the disruption of methylation, alteration of miRNA patterns and imprinting. Further considerations were given to evidence on the use of epigenetic therapy for endometriosis and future areas of investigation. The evidence reviewed conclusively shows that epigenetic mechanisms play a crucial role in the etiopathogenesis of endometriosis, with emphasis on the importance of further work in this area. Epigenetic mechanisms that have been shown to be altered in endometriosis could provide explanations for the observed alterations leading to the self-sustaining ability of endometriotic cells, and how endometriosis displays heritability as well as spontaneous development. It is also hypothesized that epigenetic aberrations may play a role in the observed immune system abnormalities in women with endometriosis.

Keywords::

• endometriosis
• epigenetics
• methylation
• miRNA

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.