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Genetic and epigenetic characteristics in ovarian tissues from polycystic ovary syndrome patients with irregular menstruation resemble those of ovarian cancer

BACKGROUND: Irregular menstruation is clinically associated with an increased risk for ovarian cancer and disease-related mortality. This relationship remains poorly understood, and a mechanism explaining it has yet to be described. METHODS: Ovarian tissues from women with polycystic ovary syndrome...

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Autores principales: Jiao, Jiao, Sagnelli, Matthew, Shi, Bei, Fang, Yuanyuan, Shen, Ziqi, Tang, Tianyu, Dong, Bingying, Li, Da, Wang, Xiuxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416936/
https://www.ncbi.nlm.nih.gov/pubmed/30866919
http://dx.doi.org/10.1186/s12902-019-0356-5
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author Jiao, Jiao
Sagnelli, Matthew
Shi, Bei
Fang, Yuanyuan
Shen, Ziqi
Tang, Tianyu
Dong, Bingying
Li, Da
Wang, Xiuxia
author_facet Jiao, Jiao
Sagnelli, Matthew
Shi, Bei
Fang, Yuanyuan
Shen, Ziqi
Tang, Tianyu
Dong, Bingying
Li, Da
Wang, Xiuxia
author_sort Jiao, Jiao
collection PubMed
description BACKGROUND: Irregular menstruation is clinically associated with an increased risk for ovarian cancer and disease-related mortality. This relationship remains poorly understood, and a mechanism explaining it has yet to be described. METHODS: Ovarian tissues from women with polycystic ovary syndrome (PCOS) and regular menstruation (n = 10) or irregular menstruation (n = 10) were subjected to DNA methylation sequencing, real-time PCR array, whole-exome sequencing, and bioinformatics analysis. RESULTS: We demonstrated that ovarian tissue from PCOS patients with irregular menstruation displayed global DNA hypomethylation, as well as hypomethylation at several functionally and oncologically significant regions. Furthermore, we showed that several cancer-related genes were aberrantly expressed in ovarian tissue from patients with irregular menstruation, and that their mRNA and microRNA profiles shared appreciable levels of coincidence with those from ovarian cancer tissue. We identified multiple point mutations in both the BRCA1 and MLH1 genes in patients with irregular menstruation, and predicted the potential pathogenicity of these mutations using bioinformatics analyses. CONCLUSIONS: Due to the nature of ovarian cancer, it is important to broaden our understanding of the pathogenesis and risk factors of the disease. Herein, we provide the first description of a genetic and epigenetic basis for the clinical relationship between irregular menstruation and an increased risk for ovarian cancer. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12902-019-0356-5) contains supplementary material, which is available to authorized users.
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spelling pubmed-64169362019-03-25 Genetic and epigenetic characteristics in ovarian tissues from polycystic ovary syndrome patients with irregular menstruation resemble those of ovarian cancer Jiao, Jiao Sagnelli, Matthew Shi, Bei Fang, Yuanyuan Shen, Ziqi Tang, Tianyu Dong, Bingying Li, Da Wang, Xiuxia BMC Endocr Disord Research Article BACKGROUND: Irregular menstruation is clinically associated with an increased risk for ovarian cancer and disease-related mortality. This relationship remains poorly understood, and a mechanism explaining it has yet to be described. METHODS: Ovarian tissues from women with polycystic ovary syndrome (PCOS) and regular menstruation (n = 10) or irregular menstruation (n = 10) were subjected to DNA methylation sequencing, real-time PCR array, whole-exome sequencing, and bioinformatics analysis. RESULTS: We demonstrated that ovarian tissue from PCOS patients with irregular menstruation displayed global DNA hypomethylation, as well as hypomethylation at several functionally and oncologically significant regions. Furthermore, we showed that several cancer-related genes were aberrantly expressed in ovarian tissue from patients with irregular menstruation, and that their mRNA and microRNA profiles shared appreciable levels of coincidence with those from ovarian cancer tissue. We identified multiple point mutations in both the BRCA1 and MLH1 genes in patients with irregular menstruation, and predicted the potential pathogenicity of these mutations using bioinformatics analyses. CONCLUSIONS: Due to the nature of ovarian cancer, it is important to broaden our understanding of the pathogenesis and risk factors of the disease. Herein, we provide the first description of a genetic and epigenetic basis for the clinical relationship between irregular menstruation and an increased risk for ovarian cancer. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12902-019-0356-5) contains supplementary material, which is available to authorized users. BioMed Central 2019-03-12 /pmc/articles/PMC6416936/ /pubmed/30866919 http://dx.doi.org/10.1186/s12902-019-0356-5 Text en © The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Jiao, Jiao
Sagnelli, Matthew
Shi, Bei
Fang, Yuanyuan
Shen, Ziqi
Tang, Tianyu
Dong, Bingying
Li, Da
Wang, Xiuxia
Genetic and epigenetic characteristics in ovarian tissues from polycystic ovary syndrome patients with irregular menstruation resemble those of ovarian cancer
title Genetic and epigenetic characteristics in ovarian tissues from polycystic ovary syndrome patients with irregular menstruation resemble those of ovarian cancer
title_full Genetic and epigenetic characteristics in ovarian tissues from polycystic ovary syndrome patients with irregular menstruation resemble those of ovarian cancer
title_fullStr Genetic and epigenetic characteristics in ovarian tissues from polycystic ovary syndrome patients with irregular menstruation resemble those of ovarian cancer
title_full_unstemmed Genetic and epigenetic characteristics in ovarian tissues from polycystic ovary syndrome patients with irregular menstruation resemble those of ovarian cancer
title_short Genetic and epigenetic characteristics in ovarian tissues from polycystic ovary syndrome patients with irregular menstruation resemble those of ovarian cancer
title_sort genetic and epigenetic characteristics in ovarian tissues from polycystic ovary syndrome patients with irregular menstruation resemble those of ovarian cancer
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416936/
https://www.ncbi.nlm.nih.gov/pubmed/30866919
http://dx.doi.org/10.1186/s12902-019-0356-5
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