Mitochondrial DNA copy number variation and gene mutations mediate polycystic ovary syndrome: research progress

Polycystic ovary syndrome (PCOS) is a prevalent endocrine and metabolic disorder affecting women of reproductive age. We provide an overview of how mitochondrial DNA (mtDNA) copy number variation (CNVs) and gene mutations mediate PCOS, including current research findings and clinical trial data to underscore a theoretical basis for further exploring its pathogenesis and developing targeted therapy. Characterized by hyperandrogenism, oligo-ovulation or anovulation, and polycystic ovarian morphology, PCOS is often accompanied by insulin resistance, metabolic syndrome, and chronic inflammation, which reduce fertility throughout the reproductive lifespan. Despite its diverse phenotypes, the etiology and pathophysiologic mechanisms of PCOS remain unclear. As the center of energy metabolism, mitochondria have emerged as a key player. Evidence suggests their structural and functional abnormalities may underlie diverse manifestations of PCOS. Previous studies have highlighted the critical role of mitochondrial morphologic alterations, functional impairments, mtDNA mutations, and CNVs in the pathogenesis and progression of PCOS. This review systematically summarizes the latest research on mtDNA CNVs and gene mutations in PCOS, identifying them as promising targets for therapeutic intervention.