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Endometriosis Pathophysiology, Diagnosis and Emerging Therapeutic Strategies
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Endometriosis Pathophysiology, Diagnosis and Emerging Therapeutic Strategies

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (20 January 2026) | Viewed by 16969

Special Issue Editor

Dr. Mariarosaria Boccellino

E-Mail Website
Guest Editor
Department of Life Science, Health and Health Professions, Link Campus University, 00165 Rome, Italy
Interests: cerebral hypoxia; prostate cancer; malignant teratoma of the mediastinum; aminoaciduria; antioxidant activity; obesity; molecular biology; translational medicine
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Endometriosis is a complex, chronic gynecological condition characterized by the presence of endometrial-like tissue outside the uterus, leading to pain, infertility, and a significant reduction in quality of life. Despite its high prevalence, the pathogenesis of endometriosis remains incompletely understood, and current treatment options are often suboptimal, necessitating further research into novel diagnostic and therapeutic strategies.

This Special Issue aims to explore the latest advances in understanding the molecular and genetic underpinnings of endometriosis, as well as innovative approaches in diagnosis and treatment. Topics of interest include the role of inflammation and immune dysregulation, hormonal and environmental factors, noninvasive diagnostic biomarkers, and novel therapeutic interventions, surgical techniques, and emerging pharmacological treatments.

For this Special Issue, we invite the submission of original research articles, reviews, and case studies that provide new insights into the pathophysiology, clinical management, and potential future directions in endometriosis research. This Special Issue seeks to foster a multidisciplinary discussion, bringing together experts in gynecology, reproductive medicine, immunology, and molecular biology to advance our understanding and treatment of this debilitating condition.

Dr. Mariarosaria Boccellino
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • endometriosis
  • pathophysiology
  • infertility
  • biomarkers
  • pharmacological treatments

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Published Papers (2 papers)

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Research

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15 pages, 2617 KB  
Article
Mucin Biology as a Local Diagnostic and Promising Therapeutic Target in Endometriosis: Expression and Glycosylation Profiling
by Renata V. Velho, Christoph Schüßler, Lisa Strey, Stefanie Weigel, Susanne Thomsen, Franziska Ebert, Jonathan Pohl, Sylvia Mechsner and Maria Maares
Int. J. Mol. Sci. 2026, 27(2), 1010; https://doi.org/10.3390/ijms27021010 - 20 Jan 2026
Viewed by 998
Abstract
Endometriosis (EM) is a chronic inflammatory disease characterized by the growth of endometrial-like tissue outside the uterus, yet its molecular mechanisms remain poorly understood. This study investigated the expression of mucins (MUC1, MUC2, MUC5AC, MUC6, MUC16) and their O-glycans in endometriotic lesions, [...] Read more.
Endometriosis (EM) is a chronic inflammatory disease characterized by the growth of endometrial-like tissue outside the uterus, yet its molecular mechanisms remain poorly understood. This study investigated the expression of mucins (MUC1, MUC2, MUC5AC, MUC6, MUC16) and their O-glycans in endometriotic lesions, given their roles in epithelial protection, adhesion, and immune modulation. Using immunohistochemistry, Western blotting, lectin profiling, histochemical staining, and transcriptomic analysis, we compared mucin levels and glycosylation patterns in eutopic and ectopic tissues from women with and without endometriosis and measured mucin-derived tumor markers in serum (CA 125/MUC16 and CA 15-3/MUC1) and peritoneal fluid (CA 125/MUC16). The results showed significant upregulation of all mucins in EM biopsies, with increased MUC1 transcript levels, while MUC6 and MUC16 protein levels did not always align with transcripts. Yet, tumor markers CA 125 and CA 15-3 showed no significant differences between groups. Looking at mucin distribution in biopsies of peritoneal (pEM), deep infiltrating and ovarian EM, MUC1 was significantly overexpressed in lesions of all EM forms, while MUC5AC was significantly elevated in pEM. Lectin analysis revealed specific glycan changes, including elevated core-1 O-glycans and α(1-2)-linked fucosylation, while sialylation remained unchanged. These findings demonstrate consistent mucin dysregulation and glycan alterations, implicating their roles in epithelial adhesion, immune evasion, and lesion persistence. Mucin biology thus emerges as a promising target for diagnostic and therapeutic strategies in endometriosis. Full article
(This article belongs to the Special Issue Endometriosis Pathophysiology, Diagnosis and Emerging Therapeutic Strategies)
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Review

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44 pages, 1741 KB  
Review
Understanding Endometriosis: A Broad Review of Its Causes, Management, and Impact
by Paweł Czubak, Karolina Herda, Iwona Niewiadomska, Lechosław Putowski, Mirosław Łańcut and Maciej Masłyk
Int. J. Mol. Sci. 2025, 26(18), 8878; https://doi.org/10.3390/ijms26188878 - 12 Sep 2025
Cited by 7 | Viewed by 15412
Abstract
Endometriosis is a complex gynecological condition affecting 10% of women globally, characterized by the growth of endometrial-like tissue outside the uterus, leading to chronic pelvic pain, infertility, reduced quality of life, and a risk of cancer. This review examines the multifaceted aspects of [...] Read more.
Endometriosis is a complex gynecological condition affecting 10% of women globally, characterized by the growth of endometrial-like tissue outside the uterus, leading to chronic pelvic pain, infertility, reduced quality of life, and a risk of cancer. This review examines the multifaceted aspects of endometriosis, including its causes, diagnostic approaches, and management strategies. Genetic and environmental factors, hormonal influences, and immunological dysregulation are addressed as potential drivers of disease progression. Treatment options, including pharmacological interventions (hormone therapy, pain management) and surgical interventions, are assessed for their effectiveness in alleviating symptoms and improving outcomes. Emerging therapies, such as small-molecule inhibitors and anti-angiogenic agents, are also explored. Additionally, the psychological impact of endometriosis is addressed, emphasizing the need for holistic care. This review highlights the importance of continued research to unravel the precise mechanisms underlying endometriosis and to develop targeted therapies for improved patient care. Full article
(This article belongs to the Special Issue Endometriosis Pathophysiology, Diagnosis and Emerging Therapeutic Strategies)
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