SynthesisJournal of clinical pathology2022
Genetic associations with polycystic ovary syndrome: the role of the mitochondrial genome; a systematic review and meta-analysis.
Synthesis in Journal of clinical pathology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 18 citations in OpenAlex.
- Cellular senescence and polycystic ovary syndrome: mechanisms and therapeutic strategies from a new perspective.Annals of medicine · 2025Review
- The Role of Mitochondrial Dysfunction and Oxidative Stress in Women's Reproductive Disorders: Implications for Polycystic Ovary Syndrome and Preeclampsia.International journal of molecular sciences · 2025Review
- The role of mitochondrial dysfunction in ovarian granulosa cells in polycystic ovary syndrome.Endocrine connections · 2025Review
- Connecting the Dots: Mitochondrial Dysfunction, PCOS, and Insulin Resistance-Insights and Therapeutic Advances.International journal of molecular sciences · 2025Review
- A Comprehensive Review of the Contribution of Mitochondrial DNA Mutations and Dysfunction in Polycystic Ovary Syndrome, Supported by Secondary Database Analysis.International journal of molecular sciences · 2025Review
- Oxidative stress and energy metabolism abnormalities in polycystic ovary syndrome: from mechanisms to therapeutic strategies.Reproductive biology and endocrinology : RB&E · 2024Review
- New insights on mitochondrial heteroplasmy observed in ovarian diseases.Journal of advanced research · 2024Review
- Granulosa cell insight: unraveling the potential of menstrual blood-derived stem cells and their exosomes on mitochondrial mechanisms in polycystic ovary syndrome (PCOS).Journal of ovarian research · 2024Article
- Mitochondrial Dysfunction in PCOS: Insights into Reproductive Organ Pathophysiology.International journal of molecular sciences · 2023Review
- Chemotherapy induced oxidative stress in the ovary: drug-dependent mechanisms and potential interventions†.Biology of reproduction · 2023Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPolycystic ovary syndrome (PCOS) remains the most common female reproductive endocrine disorder. Genetic studies have predominantly focused on the role of the nuclear genome, while the contribution of mitochondrial genetics in PCOS remains largely unknown.
aimThis study aims to systematically evaluate the literature regarding the associations between the mitochondrial genome and PCOS.
methodsA literature search focused on PCOS and mitochondrial genetics was conducted on (1) MEDLINE, (2) EMBASE and (3) The Cochrane Library (CENTRAL and Cochrane Reviews). Search results were screened for eligibility, and data involving genetic variants of mitochondrial DNA (mtDNA) were extracted. Quantitative data were presented in forest plots, and where this was not possible, data were analysed in a qualitative manner. Quality of studies was assessed using the Q-Genie tool.
resultsOf the 13 812 identified studies, 15 studies were eligible for inclusion, with 8 studies suitable for meta-analysis. Women with PCOS showed higher frequencies of a 9 bp deletion, and aberrant single nucleotide polymorphisms (SNPs) in the ND5, A6 and 7 transfer RNA-encoding genes. They also showed lower frequencies of two SNPs in the D-loop of the genome. Women with PCOS also exhibited significantly lowered mtDNA copy number.
conclusionWomen with PCOS harbour genetic variants in coding and non-coding regions of the mitochondrial genome. This may disrupt the electron transport chain and lead to oxidative stress, causing apoptosis of cells and further genetic damage. However, further studies of higher quality are required to confirm these associations. PROSPERO REGISTRATION NUMBER: CRD42021267991.
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