The role of RAD51 regulators and variants in primary ovarian insufficiency, endometriosis, and polycystic ovary syndrome

Maggie Witham, Sarah R Hengel
NAR molecular medicine · 2024 · vol. 1(4) , pp. ugae010 · doi:10.1093/narmme/ugae010 · PMID:39359934 · W4402947450
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This paper examines RAD51 regulators and their variants in primary ovarian insufficiency, endometriosis, and polycystic ovary syndrome, identifying novel biomarkers for POI and PCOS.

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Abstract

Abstract The study of RAD51 regulators in female reproductive diseases has novel biomarker potential and implications for therapeutic advancement. Regulators of RAD51 play important roles in maintaining genome integrity and variations in these genes have been identified in female reproductive diseases including primary ovarian insufficiency (POI), endometriosis, and polycystic ovary syndrome (PCOS). RAD51 modulators change RAD51 activity in homologous recombination, replication stress, and template switching pathways. However, molecular implications of these proteins in primary ovarian insufficiency, endometriosis, and polycystic ovary syndrome have been understudied. For each reproductive disease, we provide its definition, current diagnostic and therapeutic treatment strategies, and associated genetic variations. Variants were discovered in RAD51, and regulators including DMC1, RAD51B, SWS1, SPIDR, XRCC2 and BRCA2 linked with POI. Endometriosis is associated with variants in XRCC3, BRCA1 and CSB genes. Variants in BRCA1 were associated with PCOS. Our analysis identified novel biomarkers for POI (DMC1 and RAD51B) and PCOS (BRCA1). Further biochemical and cellular analyses of RAD51 regulator functions in reproductive disorders will advance our understanding of the pathogenesis of these diseases.

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endometriosis

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