Polycystic Ovarian Syndrome Genetics and Epigenetics

Combs, Joshua C.; Hill, Micah J.; DeCherney, Alan H.

doi:10.1097/grf.0000000000000581

Cited by 13 publications

(14 citation statements)

References 20 publications

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“…Notwithstanding the decades of intensive research, the exact molecular mechanism of PCOS pathogenesis is still obscure. PCOS develops as a system disease connected to genetic and epigenetic changes that vary among different populations and family lineages [4,5]. PCOS diagnosis relies on the socalled "Rotterdam criteria", defined in 2003 [6], where oligo-and/or anovulation, surplus androgen activity and polycystic ovaries are the main criteria.…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial Dysfunction and Chronic Inflammation in Polycystic Ovary Syndrome

Dabravolski

Nikiforov

Eid

et al. 2021

IJMS

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Polycystic ovarian syndrome (PCOS) is the most common endocrine–metabolic disorder affecting a vast population worldwide; it is linked with anovulation, mitochondrial dysfunctions and hormonal disbalance. Mutations in mtDNA have been identified in PCOS patients and likely play an important role in PCOS aetiology and pathogenesis; however, their causative role in PCOS development requires further investigation. As a low-grade chronic inflammation disease, PCOS patients have permanently elevated levels of inflammatory markers (TNF-α, CRP, IL-6, IL-8, IL-18). In this review, we summarise recent data regarding the role of mtDNA mutations and mitochondrial malfunctions in PCOS pathogenesis. Furthermore, we discuss recent papers dedicated to the identification of novel biomarkers for early PCOS diagnosis. Finally, traditional and new mitochondria-targeted treatments are discussed. This review intends to emphasise the key role of oxidative stress and chronic inflammation in PCOS pathogenesis; however, the exact molecular mechanism is mostly unknown and requires further investigation.

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Section: Introductionmentioning

confidence: 99%

Mitochondrial Dysfunction and Chronic Inflammation in Polycystic Ovary Syndrome

Dabravolski

Nikiforov

Eid

et al. 2021

IJMS

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“…We identified several key genes such as IRS1, KLF5, CYP1B1, ETS1, BMP4 and some signaling pathways including steroid metabolic process, response to insulin, female pregnancy, estrous cycle and fat cell differentiation. The alternation of these genes expression and signaling pathways could contribute to the symptoms of PCOS, such as the type 2 diabetes, infertility, hormonal disorders and obesity [25,58]. Additionally, we found some differentially expressed genes were significantly enriched in circadian rhythm signaling pathway (Figure 1E), suggesting that insomnia observed in some of the PCOS patients might due to the expression changes of these genes.…”

Section: Discussionmentioning

confidence: 87%

Characterization of DNA Methylation and Screening of Epigenetic Markers in Polycystic Ovary Syndrome

Cao¹,

Yang²,

Wang³

et al. 2021

Prime Archives in Biosciences

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“…We identified several key genes, such as IRS1, KLF5, CYP1B1, ETS1, and BMP4, and some signaling pathways including steroid metabolic process, response to insulin, female pregnancy, estrous cycle, and fat cell differentiation. The alternation of these genes’ expression and signaling pathways could contribute to the symptoms of PCOS, such as the type 2 diabetes, infertility, hormonal disorders, and obesity ( Combs et al, 2021 ; Mao et al, 2021 ). Additionally, we found some DEGs were significantly enriched in circadian rhythm signaling pathway ( Figure 1E ), suggesting that insomnia observed in some of the PCOS patients might be due to the expression changes of these genes.…”

Section: Discussionmentioning

confidence: 99%

Characterization of DNA Methylation and Screening of Epigenetic Markers in Polycystic Ovary Syndrome

Cao

Yang

Wang

et al. 2021

Front. Cell Dev. Biol.

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Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine and metabolic disorder in women, which is characterized by androgen excess, ovulation dysfunction, and polycystic ovary. Although the etiology of PCOS is largely unknown, many studies suggest that aberrant DNA methylation is an important contributing factor for its pathological changes. In this study, we investigated DNA methylation characteristics and their impact on gene expression in granulosa cells obtained from PCOS patients. Transcriptome analysis found that differentially expressed genes were mainly enriched in pathways of insulin resistance, fat cell differentiation, and steroid metabolism in PCOS. Overall DNA methylation level in granulosa cells was reduced in PCOS, and the first introns were found to be the major genomic regions that were hypomethylated in PCOS. Integrated analysis of transcriptome, DNA methylation, and miRNAs in ovarian granulosa cells revealed a DNA methylation and miRNA coregulated network and identified key candidate genes for pathogenesis of PCOS, including BMP4, ETS1, and IRS1. Our study shed more light on epigenetic mechanism of PCOS and provided valuable reference for its diagnosis and treatment.

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Polycystic Ovarian Syndrome Genetics and Epigenetics

Cited by 13 publications

References 20 publications

Mitochondrial Dysfunction and Chronic Inflammation in Polycystic Ovary Syndrome

Mitochondrial Dysfunction and Chronic Inflammation in Polycystic Ovary Syndrome

Characterization of DNA Methylation and Screening of Epigenetic Markers in Polycystic Ovary Syndrome

Characterization of DNA Methylation and Screening of Epigenetic Markers in Polycystic Ovary Syndrome

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