Background: The heritable silencing of genes, without a change in their coding sequence,
is due to epigenetic mechanisms. These mechanisms involve DNA methylation, the modification of
histone, and non-coding RNA. Disrupting the balance of the epigenetic profile or network can cause
a variety of diseases.
Objective: We provide an overview of epigenetic mechanisms and epigenetic modifiers in
endometriosis, focusing on DNA methylation and histone modification.
Results: We discuss the aberrant gene expressions induced by DNA methylation, histone
modification, and epigenetic cross-talk in endometriosis, and we discuss these mechanisms in light of
the hypothesis that endometriosis is an epigenetic disease. DNA methylation inhibitors and histone
deacetylase inhibitors are approved as epigenetic drugs for other human diseases, which may
contribute to the eventual use of epigenetic drugs for endometriosis. We discuss the possibility of
applying these drugs in as treatment for endometriosis. Great potential is also suggested by the
development of diagnostic tools and predictive and prognostic biomarkers that use the differences in
epigenetic patterns between individuals with endometriosis and controls. We document the
theoretical background of this concept. We also discuss some unresolved issues about epigenetic
mechanisms in endometriosis, and we add our personal perspectives on the resolution of these issues.
Conclusion: Recent findings on aberrant DNA methylation and histone modification in
endometriosis support the hypothesis that endometriosis should be recognized, at least in part, as an
epigenetic disease. However, further investigations are required to elucidate the complex interaction
phenomena of epigenetics in endometriosis.