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Endometriosis and Uterine Fibroids: From Molecular Biology to Therapy

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 (31 October 2021) | Viewed by 4730

Special Issue Editors


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Guest Editor

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Guest Editor
Department of Obstetrics and Gynecology, Medical University of Vienna, 1090 Vienna, Austria
Interests: endometriosis; non-invasive diagnostic markers; phathophysiology; pharmacologic treatment
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Special Issue Information

Dear Colleagues,

This Special Issue entitled “Endometriosis and Uterine Fibroids: From Molecular Biology to Therapy” will comprise a selection of novel research articles.

Endometriosis affects up to ten percent of women of reproductive age and causes symptoms that include different chronic pelvic pain manifestations and infertility. The therapeutic strategies include surgical resection of ectopic lesions, pain management, and different hormonal treatments. At present, some subtypes of this benign disease can only be diagnosed by laparoscopy, as a valid non-invasive diagnostic marker has not yet been established.

Uterine fibroids are the most common gynecological disease. Symptoms include heavy menstrual bleeding, bloating, anemia, pelvic pain, and subfertility. In addition to symptomatic therapy and surgical removal of these benign tumors, the goal of recent research focuses on hormonally induced reduction of size and consequent improvement of individual symptoms.

As both diseases (endometriosis and uterine fibroids) are estrogen-dependent, many therapeutic strategies are based on hormonal agents and are similar for both diseases. To date, our therapeutic armamentarium has not been dramatically improved over the last decades. This is based on the fact that the etiology and pathophysiology of endometriosis and uterine fibroids have not been completely elucidated. A better understanding of these mechanisms could lead to new therapeutic options.

All contributions, either review, meta-analysis, or original research articles related to our topic “Endometriosis and Uterine Fibroids: From Molecular Biology to Therapy”, are welcome for submission in this Special Issue of the International Journal of Molecular Sciences.

Prof. Dr. René Wenzl
Dr. Alexandra Perricos
Guest Editors

Manuscript Submission Information

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Keywords

  • endometriois
  • uterine fibroids
  • pathophysiology
  • estrogen
  • pain
  • infertility
  • subfertility
  • diagnostic marker
  • laparoscopic surgery
  • dysmenorrhea
  • anemia

Published Papers (1 paper)

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Review

28 pages, 1695 KiB  
Review
Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing
by Imane Lalami, Carole Abo, Bruno Borghese, Charles Chapron and Daniel Vaiman
Int. J. Mol. Sci. 2021, 22(14), 7297; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22147297 - 07 Jul 2021
Cited by 19 | Viewed by 3912
Abstract
This review aims at better understanding the genetics of endometriosis. Endometriosis is a frequent feminine disease, affecting up to 10% of women, and characterized by pain and infertility. In the most accepted hypothesis, endometriosis is caused by the implantation of uterine tissue at [...] Read more.
This review aims at better understanding the genetics of endometriosis. Endometriosis is a frequent feminine disease, affecting up to 10% of women, and characterized by pain and infertility. In the most accepted hypothesis, endometriosis is caused by the implantation of uterine tissue at ectopic abdominal places, originating from retrograde menses. Despite the obvious genetic complexity of the disease, analysis of sibs has allowed heritability estimation of endometriosis at ~50%. From 2010, large Genome Wide Association Studies (GWAS), aimed at identifying the genes and loci underlying this genetic determinism. Some of these loci were confirmed in other populations and replication studies, some new loci were also found through meta-analyses using pooled samples. For two loci on chromosomes 1 (near CCD42) and chromosome 9 (near CDKN2A), functional explanations of the SNP (Single Nucleotide Polymorphism) effects have been more thoroughly studied. While a handful of chromosome regions and genes have clearly been identified and statistically demonstrated as at-risk for the disease, only a small part of the heritability is explained (missing heritability). Some attempts of exome sequencing started to identify additional genes from families or populations, but are still scarce. The solution may reside inside a combined effort: increasing the size of the GWAS designs, better categorize the clinical forms of the disease before analyzing genome-wide polymorphisms, and generalizing exome sequencing ventures. We try here to provide a vision of what we have and what we should obtain to completely elucidate the genetics of this complex disease. Full article
(This article belongs to the Special Issue Endometriosis and Uterine Fibroids: From Molecular Biology to Therapy)
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