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DNA double-strand break genetic variants in patients with premature ovarian insufficiency

Premature ovarian insufficiency (POI) is a clinically heterogeneous disease that may seriously affect the physical and mental health of women of reproductive age. POI primarily manifests as ovarian function decline and endocrine disorders in women prior to age 40 and is an established cause of femal...

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Autores principales: Ding, Xuechun, Gong, Xiaowei, Fan, Yingying, Cao, Jinghe, Zhao, Jingyu, Zhang, Yixin, Wang, Xiaomei, Meng, Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10332088/
https://www.ncbi.nlm.nih.gov/pubmed/37430352
http://dx.doi.org/10.1186/s13048-023-01221-2
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author Ding, Xuechun
Gong, Xiaowei
Fan, Yingying
Cao, Jinghe
Zhao, Jingyu
Zhang, Yixin
Wang, Xiaomei
Meng, Kai
author_facet Ding, Xuechun
Gong, Xiaowei
Fan, Yingying
Cao, Jinghe
Zhao, Jingyu
Zhang, Yixin
Wang, Xiaomei
Meng, Kai
author_sort Ding, Xuechun
collection PubMed
description Premature ovarian insufficiency (POI) is a clinically heterogeneous disease that may seriously affect the physical and mental health of women of reproductive age. POI primarily manifests as ovarian function decline and endocrine disorders in women prior to age 40 and is an established cause of female infertility. It is crucial to elucidate the causative factors of POI, not only to expand the understanding of ovarian physiology, but also to provide genetic counselling and fertility guidance to affected patients. Factors leading to POI are multifaceted with genetic factors accounting for 7% to 30%. In recent years, an increasing number of DNA damage-repair-related genes have been linked with the occurrence of POI. Among them, DNA double-strand breaks (DSBs), one of the most damaging to DNA, and its main repair methods including homologous recombination (HR) and non-homologous end joining (NHEJ) are of particular interest. Numerous genes are known to be involved in the regulation of programmed DSB formation and damage repair. The abnormal expression of several genes have been shown to trigger defects in the overall repair pathway and induce POI and other diseases. This review summarises the DSB-related genes that may contribute to the development of POI and their potential regulatory mechanisms, which will help to further establish role of DSB in the pathogenesis of POI and provide theoretical guidance for the study of the pathogenesis and clinical treatment of this disease.
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spelling pubmed-103320882023-07-11 DNA double-strand break genetic variants in patients with premature ovarian insufficiency Ding, Xuechun Gong, Xiaowei Fan, Yingying Cao, Jinghe Zhao, Jingyu Zhang, Yixin Wang, Xiaomei Meng, Kai J Ovarian Res Review Premature ovarian insufficiency (POI) is a clinically heterogeneous disease that may seriously affect the physical and mental health of women of reproductive age. POI primarily manifests as ovarian function decline and endocrine disorders in women prior to age 40 and is an established cause of female infertility. It is crucial to elucidate the causative factors of POI, not only to expand the understanding of ovarian physiology, but also to provide genetic counselling and fertility guidance to affected patients. Factors leading to POI are multifaceted with genetic factors accounting for 7% to 30%. In recent years, an increasing number of DNA damage-repair-related genes have been linked with the occurrence of POI. Among them, DNA double-strand breaks (DSBs), one of the most damaging to DNA, and its main repair methods including homologous recombination (HR) and non-homologous end joining (NHEJ) are of particular interest. Numerous genes are known to be involved in the regulation of programmed DSB formation and damage repair. The abnormal expression of several genes have been shown to trigger defects in the overall repair pathway and induce POI and other diseases. This review summarises the DSB-related genes that may contribute to the development of POI and their potential regulatory mechanisms, which will help to further establish role of DSB in the pathogenesis of POI and provide theoretical guidance for the study of the pathogenesis and clinical treatment of this disease. BioMed Central 2023-07-10 /pmc/articles/PMC10332088/ /pubmed/37430352 http://dx.doi.org/10.1186/s13048-023-01221-2 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Review
Ding, Xuechun
Gong, Xiaowei
Fan, Yingying
Cao, Jinghe
Zhao, Jingyu
Zhang, Yixin
Wang, Xiaomei
Meng, Kai
DNA double-strand break genetic variants in patients with premature ovarian insufficiency
title DNA double-strand break genetic variants in patients with premature ovarian insufficiency
title_full DNA double-strand break genetic variants in patients with premature ovarian insufficiency
title_fullStr DNA double-strand break genetic variants in patients with premature ovarian insufficiency
title_full_unstemmed DNA double-strand break genetic variants in patients with premature ovarian insufficiency
title_short DNA double-strand break genetic variants in patients with premature ovarian insufficiency
title_sort dna double-strand break genetic variants in patients with premature ovarian insufficiency
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10332088/
https://www.ncbi.nlm.nih.gov/pubmed/37430352
http://dx.doi.org/10.1186/s13048-023-01221-2
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