Cited by 113Endometriosis Research and TreatmentEctopic Pregnancy Diagnosis and ManagementGynecological conditions and treatments

Molecular biology of endometriosis: from aromatase to genomic abnormalities

Monsivais, Diana, Kakinuma, Toshiyuki, Furukawa, Yuichi, Bernardi, Lia, Pavone, Mary, Dyson, Matthew, Bulun, Serdar·2015·Seminars in Reproductive Medicine

Abstract

Endometriosis has been initially described as the presence of ectopic endometrial tissue on pelvic organs or in extrapelvic sites; and this has been used as its key pathologic feature ever since. Endometriosis responds to fluctuations in estrogen and progesterone by growth and inflammation, leading to pain aggravated by menses. It was proposed that pelvic endometriosis primarily originate from retrograde menstruation of a critical number of eutopic endometrial cells with stem characteristics. This postulate is supported by the molecular defects found in ectopic endometriotic tissue. Genome-wide differences in CpG methylation between eutopic endometrial and endometriotic stromal cells are present. Defective CpG methylation affecting several genes that encode key transcription factors such as GATA6, steroidogenic factor-1, and estrogen receptor-β in endometriosis gives rise to overproduction of local estrogen and prostaglandins and suppression of progesterone receptor. Progesterone receptor deficiency leads to progesterone resistance, resulting in decreased retinol uptake and retinoic acid production and altered retinoic acid action. These molecular defects collectively give rise to poor cellular differentiation, enhanced survival, and increased inflammation, which are the biological hallmarks of endometriotic tissue.

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Crossref · 10.1055/s-0035-1554053

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  • Local estrogen production and progesterone resistance were demonstrated in larger endometriosis lesions.

    “Local estrogen production (154) and progesterone resistance (155-162) were demonstrated in larger endometriosis lesions (154-163)”

    From Pathogenesis of endometriosis: The genetic/epigenetic theory (2019) · cites this paper as [154]

  • The biochemical changes in endometriosis lesions are increasingly viewed as a consequence of genetic or epigenetic polymorphism.

    “These changes are increasingly viewed as a consequence of genetic or epigenetic polymorphism (154, 188-190).”

    From Pathogenesis of endometriosis: The genetic/epigenetic theory (2019) · cites this paper as [154]

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Authors
Monsivais, D., Kakinuma, T., Furukawa, Y., Bernardi, L., Pavone, M., Dyson, M., & Bulun, S.
Affiliations
Northwestern University (US)
Corresponding author
Bulun, Serdar
Venue
Seminars in Reproductive Medicine
Published
2015-06-02
Volume
33
Issue
03
Pages
220-224
ISSN
  • 1526-4564 (ISSN-L)
  • 1526-8004
OpenAlex
W2225996156
Cited by
112
References
0
Citations by year
2026: 6 · 2025: 4 · 2024: 6 · 2023: 7 · 2022: 9 · 2021: 9 · 2020: 19 · 2019: 16 · 2018: 20 · 2017: 6 · 2016: 8 · 2015: 2
FWCI
13.69
Type
journal article
Language
en
Open access
closed
Locations
  • Seminars in Reproductive Medicine (publishedVersion)
  • PubMed (publishedVersion)
Funders
Eunice Kennedy Shriver National Institute of Child Health and Human Development (R37HD038691, R03HD082558)
Topics
  • Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ectopic Pregnancy Diagnosis and Management
  • Health Sciences › Medicine › Obstetrics and Gynecology › Gynecological conditions and treatments
Keywords
endometriosis, aromatase, genomic abnormalities, CpG methylation, retrograde menstruation, endometriotic stromal cells, estrogen receptor beta, progesterone receptor, progesterone resistance, retinoic acid, GATA6, steroidogenic factor 1, prostaglandins, inflammation, eutopic endometrium
MeSH terms
Aromatase, Cell Survival, Endometriosis, Endometrium, Epithelial Cells, Estrogens, Female, Humans, Receptors, Progesterone, Retinoids, DNA Methylation, Epigenesis, Genetic, PPAR delta, Estrogen Receptor beta, PPAR-beta, Cell Proliferation, Steroidogenic Factor 1

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