Pathogenomics of Endometriosis Development

В. С. Баранов, Natalia S. Osinovskaya, Maria I. Yarmolinskaya
In: Prime Archives in Molecular Biology · 2020 · doi:10.37247/pamb.1.2020.20 · W4249672718
book-chapter OA: bronze CC0 ⤵ 4 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-10 ⓘ

This review explores the molecular, genetic, and epigenetic mechanisms underlying endometriosis development, proposing an endometriosis development genetic program that governs stem cell origin, transition, and lesion progression.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-10 ⓘ

This paper reviews the molecular “pathogenomics” of endometriosis development, focusing on how endometrial progenitor and other stem cell populations might generate endometriotic lesions through genetic and epigenetic regulation across developmental stages. The authors propose an “endometriosis development program” (EMDP) that coordinates stages including programming of endometrial stem cells, transition via epithelial–mesenchymal transition (EMT) into mesenchymal stem cells, and subsequent invasion of the peritoneum and progression to lesions, while also discussing a unifying theory of origin and the concept of sensitive periods where genome reprogramming could be particularly influential. A key limitation is that many mechanistic details and stem-cell markers/origins remain uncertain, including whether identified stem cells are truly endometrial or derived from other sources such as bone marrow or the peritoneal lining. This paper is centrally about endometriosis — it develops and discusses the EMDP concept linking genetic/epigenetic mechanisms and stem-cell EMT-driven development of endometriotic lesions.

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Abstract

For over 100 years, endometriosis, as a chronic, estrogendependent, inflammatory, heritable disease affecting approximately 5-10% of women in reproductive age has been the focus of clinicians and scientists. In spite of numerous environmental, genetic, epigenetic, endocrine, and immunological studies, our knowledge of endometriosis is still fragmentary, and its precise pathophysiology and pathogenomics remain a mystery. The implementation of new technologies has provided tremendous progress in understanding the many intrinsic molecular mechanisms in the development of endometriosis, with progenitor and stem cells (SCs) of the eutopic endometrium as the starting players and endometriotic lesions as the final pathomorphological trait. Novel data on the molecular, genetic, and epigenetic mechanisms of the disease are briefly outlined. We hypothesize the existence of an endometriosis development genetic program (EMDP) that governs the origin of endometrium stem cells programmed for endometriosis (1), their transition (metaplasia) into mesenchymal SCs (2), and their invasion of the peritoneum and progression to endometriotic lesions (3). The pros and cons of the recent unifying theory of endometriosis are also discussed. Complex genomic and epigenetic interactions at different stages of the endometriosis process result in different forms of the disease, with specific features and clinical manifestations. The significance of the EMDP in elaborating a new strategy for endometriosis prediction, prevention, and treatment is discussed.

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endometriosis

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