AI Article Synopsis
- PCOS is the most common reproductive endocrine disorder in women, yet the role of mitochondrial genetics in this condition is mostly unexplored.
- This study systematically reviewed existing literature to identify connections between mitochondrial DNA and PCOS, analyzing data from multiple databases.
- The findings revealed that women with PCOS have specific genetic variants in their mitochondrial genome and a lower mtDNA copy number, which may lead to cellular stress and damage, indicating a need for further research to clarify these associations.
Article Abstract
Background: Polycystic 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.
Aim: This study aims to systematically evaluate the literature regarding the associations between the mitochondrial genome and PCOS.
Methods: A 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.
Results: Of 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.
Conclusion: Women 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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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9685702 | PMC |
| http://dx.doi.org/10.1136/jcp-2021-208028 | DOI Listing |
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