DNA double-strand break genetic variants in patients with premature ovarian insufficiency.
DNA double-strand breaks
Homologous recombination
Infertility
Non-homologous end joining
Premature ovarian insufficiency
Journal
Journal of ovarian research
ISSN: 1757-2215
Titre abrégé: J Ovarian Res
Pays: England
ID NLM: 101474849
Informations de publication
Date de publication:
10 Jul 2023
10 Jul 2023
Historique:
received:
10
09
2022
accepted:
20
06
2023
medline:
12
7
2023
pubmed:
11
7
2023
entrez:
10
7
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37430352
doi: 10.1186/s13048-023-01221-2
pii: 10.1186/s13048-023-01221-2
pmc: PMC10332088
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
135Informations de copyright
© 2023. The Author(s).
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