Transcriptional and epigenetic changes influencing skeletal muscle metabolism in women with polycystic ovary syndrome
Open accessAbstract
Context: Insulin resistance in skeletal muscle is a major risk factor for the development of type 2 diabetes in women with polycystic ovary syndrome (PCOS). Despite this, the mechanisms underlying insulin resistance in PCOS are largely unknown. Objective: To investigate the genome-wide DNA methylation and gene expression patterns in skeletal muscle from women with PCOS and controls and relate them to phenotypic variations. Design/Participants: In a case-control study, skeletal muscle biopsies from women with PCOS (n = 17) and age-, weight-, and body mass index‒matched controls (n = 14) were analyzed by array-based DNA methylation and mRNA expression profiling. Results: Eighty-five unique transcripts were differentially expressed in muscle from women with PCOS vs controls, including DYRK1A, SYNPO2, SCP2, and NAMPT. Furthermore, women with PCOS had reduced expression of genes involved in immune system pathways. Two CpG sites showed differential DNA methylation after correction for multiple testing. However, an mRNA expression of ∼30% of the differentially expressed genes correlated with DNA methylation levels of CpG sites in or near the gene. Functional follow-up studies demonstrated that KLF10 is under transcriptional control of insulin, where insulin promotes glycogen accumulation in myotubes of human muscle cells. Testosterone downregulates the expression levels of COL1A1 and MAP2K6. Conclusion: PCOS is associated with aberrant skeletal muscle gene expression with dysregulated pathways. Furthermore, we identified specific changes in muscle DNA methylation that may affect gene expression. This study showed that women with PCOS have epigenetic and transcriptional changes in skeletal muscle that, in part, can explain the metabolic abnormalities seen in these women.
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Epigenetic variants have been reported for adipose tissue and muscle.
“Epigenetic variants have been reported for adipose tissue and muscle [120, 121].”
From Polycystic Ovary Syndrome: Pathophysiology, Presentation, and Treatment With Emphasis on Adolescent Girls (2019) · cites this paper as [121]
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An Evolutionary Model for the Ancient Origins of Polycystic Ovary Syndrome
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Mechanisms of insulin resistance
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Non-cell autonomous mechanisms control mitochondrial gene dysregulation in polycystic ovary syndrome
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Stener‐Victorin, E., Eriksson, G., Shrestha, M. M., Paris, V. R., Lu, H., Banks, J. L., Samad, M., Perian, C., Jude, B., Engman, V., et al. (2023) · eLife · doi:10.7554/elife.87592 · Cited by 18 · see citing works
Characterizing skeletal muscle dysfunction in women with polycystic ovary syndrome
McDonnell, T., Cussen, L., McIlroy, M., & O’Reilly, M. (2022) · Therapeutic Advances in Endocrinology and Metabolism · doi:10.1177/20420188221113140 · Cited by 13 · see citing works
PCOS and the Genome: Is the Genetic Puzzle Still Worth Solving?
Palumbo, M., Corte, L. D., Colacurci, D., Ascione, M., D’Angelo, G., Baldini, G. M., Giampaolino, P., & Bifulco, G. (2025) · Biomedicines · doi:10.3390/biomedicines13081912 · Cited by 12 · see citing works
Epigenetic Changes Associated With Obesity-related Metabolic Comorbidities
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DNA methylation associated with polycystic ovary syndrome: a systematic review
Miranda, A. G., Seneda, M. M., & Faustino, L. R. (2023) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-023-07025-5 · Cited by 11 · see citing works
Polyendocrine metabolic ovarian syndrome in pregnancy: pathophysiology and outcomes
Teede, H., Vanky, E., Piltonen, T., Stener-Victorin, E., Moran, L., & Bahri-Khomami, M. (2026) · Nature Reviews Endocrinology · doi:10.1038/s41574-026-01261-w · Cited by 8 · see citing works
García-Beltrán, C., Malpique, R., Andersen, M., Baş, F., Bassols, J., Darendelıler, F., Díaz, M., Dieris, B., Fanelli, F., Fröhlich-Reiterer, E. E., et al. (2023) · Trials · doi:10.1186/s13063-023-07593-6 · Cited by 10 · see citing works
Deciphering the DNA Methylome of Polycystic Ovary Syndrome
Tan, Q. (2020) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-020-00463-w · Cited by 10 · see citing works
Krüppel‐like factor 10 regulates the contractile properties of skeletal muscle fibers in mice
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Dumesic, D. A., Padmanabhan, V., & Abbott, D. H. (2025) · Reproduction · doi:10.1530/rep-25-0021 · Cited by 10 · see citing works
Shafiei, G., Saheli, M., Ganjalikhan-Hakemi, S., Haghpanah, T., & Nematollahi‐Mahani, S. N. (2023) · Journal of Ovarian Research · doi:10.1186/s13048-023-01317-9 · Cited by 8 · see citing works
3 CpG Methylation Biomarkers for the Diagnosis of Polycystic Ovary Syndrome (PCOS) in Blood Samples
Zeng, L., Lu, R., Xie, L., Jiang, X., Chen, Y., Huang, C., Chen, Y., Liu, G., & Sun, W.-X. (2021) · Combinatorial Chemistry & High Throughput Screening · doi:10.2174/1386207321666210602170054 · Cited by 8 · see citing works
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Pant, P., Chitme, H. R., Sircar, R., Prasad, R., & Prasad, H. O. (2023) · Future Journal of Pharmaceutical Sciences · doi:10.1186/s43094-023-00475-3 · Cited by 6 · see citing works
Peng, H., Ren, J., Zhao, Y., Fang, X., Wang, X., Liu, C., & Wan, Z. (2025) · Diabetes Research and Clinical Practice · doi:10.1016/j.diabres.2025.112235 · Cited by 6 · see citing works
MASLD, diabetes and PMOS across the female life stages
Stener‐Victorin, E., Carlsson, S., Hagström, H., & Taebnia, N. (2026) · Diabetologia · doi:10.1007/s00125-026-06761-y · Cited by 6 · see citing works
Liu, S., Wang, R., Yu, W., Shi, C., Wang, X., Liu, A., & Zhang, L. (2026) · Nutrients · doi:10.3390/nu18060964 · Cited by 4 · see citing works
Osmancevic, A., Allison, M., Miljkovic, I., Vella, C. A., Ouyang, P., Trimpou, P., & Daka, B. (2025) · Maturitas · doi:10.1016/j.maturitas.2025.108197 · Cited by 4 · see citing works
Epigenetic and transgenerational transmission of polycystic ovary syndrome
Stener‐Victorin, E. (2020) · Current Opinion in Endocrine and Metabolic Research · doi:10.1016/j.coemr.2020.03.005 · Cited by 4 · see citing works
Reproductive disease epigenetics
Colón-Díaz, M., Jaramillo, A. J., Soto, E. Y., & Elosegui, P. M. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-823928-5.00027-x · Cited by 4 · see citing works
Le syndrome des ovaires polykystiques : quelles nouveautés en 2019 ?
Gourbesville, C., Kerlan, V., & Reznik, Y. (2019) · Annales d Endocrinologie · doi:10.1016/s0003-4266(19)30114-3 · Cited by 4 · see citing works
Hu, R., Jin, L., Li, Q., Fan, P., Fan, W., & Xu, J. (2026) · Journal of Ovarian Research · doi:10.1186/s13048-026-02040-x · Cited by 3 · see citing works
Tehrani, L., Tashjian, M., Movva, C., Fakiro, Y., Frank, J., & Nathanson, L. (2025) · Cureus · doi:10.7759/cureus.84279 · Cited by 3 · see citing works
Precision Nutrition in Female Reproductive Health
Dumesic, D. A., Chazenbalk, G. D., & Heber, D. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-15315-0.00002-x · Cited by 3 · see citing works
Stener‐Victorin, E., Eriksson, G., Shrestha, M. M., Paris, V. R., Lu, H., Banks, J. L., Samad, M., Perian, C., Jude, B., Engman, V., et al. (2024) · eLife · doi:10.7554/elife.87592.3 · Cited by 3 · see citing works
Stener‐Victorin, E., Eriksson, G., Shrestha, M. M., Paris, V. R., Lu, H., Banks, J. L., Samad, M., Perian, C., Jude, B., Engman, V., et al. (2023) · medRxiv · doi:10.1101/2023.03.08.23286896 · Cited by 3 · see citing works
Molecular Mechanisms Underlying Reproductive Dysfunction in Polycystic Ovary Syndrome
Kobayashi, H., Shigetomi, H., Nishio, M., Umetani, M., Imanaka, S., & Hashimoto, H. (2026) · Reproductive Sciences · doi:10.1007/s43032-026-02097-5 · Cited by 3 · see citing works
Clinical profiling of polycystic ovary syndrome patients in Kashmir population
Ashraf, A., Singh, R., & Shahnawaz, M. (2022) · Matrix Science Pharma · doi:10.4103/mtsp.mtsp_4_22 · Cited by 2 · see citing works
Branavan, U., Wijesundera, S., Chandrasekharan, V., & Wijeyaratne, C. N. (2021) · Advances in Technology · doi:10.31357/ait.v1i1.4889 · Cited by 2 · see citing works
Differential Methylation Signatures Associated with PCOS- A Systematic Review and In-Silico Analysis
Sharma, P. P., Ghosal, A., Aiswarya, V. S., Daryani, S., Brahma, T., & Khetarpal, P. (2025) · Reproductive Sciences · doi:10.1007/s43032-025-01976-7 · Cited by 1 · see citing works
Genetics and Epigenetics of Polycystic Ovary Syndrome
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Ивановна, А. Е., Yarmolinskaya, M. I., & Osinovskaya, N. S. (2023) · Journal of obstetrics and women s diseases · doi:10.17816/jowd611015 · Cited by 1 · see citing works
Type I fiber decrease and ectopic fat accumulation in skeletal muscle from women with PCOSPreprint
Stener‐Victorin, E., Eriksson, G., Shrestha, M. M., Paris, V. R., Lu, H., Banks, J. L., Samad, M., Perian, C., Jude, B., Engman, V., et al. (2023) · eLife · doi:10.7554/elife.87592.2 · Cited by 1 · see citing works
The Plasma Glycome of Women With PCOS is Different From Healthy ControlsPreprint
Holman, M., Li, S. J., Ahern, M. M., Ruhaak, L. R., Karakas, S., & Krishnan, S. (2025) · medRxiv · doi:10.1101/2025.03.14.25323948 · Cited by 1 · see citing works
Type I fiber decrease and ectopic fat accumulation in skeletal muscle from women with PCOSPreprint
Stener‐Victorin, E., Eriksson, G., Shrestha, M. M., Perian, C., Jude, B., Engman, V., Boi, R., Nilsson, E., Ling, C., Nyström, J., et al. (2023) · eLife · doi:10.7554/elife.87592.1
Development of Research on the Etiology and Pathogenesis of Polycystic Ovary Syndrome
Wei, G., Wang, M., Yang, Y., & He, F. (2023) · Current Research in Medical Sciences · doi:10.56397/crms.2023.12.05
Hormonelle Regulation des menstruellen Zyklus und ihre Störungen
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The Plasma Glycome Differences Between Women with PCOS and Healthy Controls
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Cell type–resolved transcriptomic map of skeletal muscle in women with polycystic ovary syndromePreprint
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- Authors
- Nilsson, E., Benrick, A., Kokosar, M., Krook, A., Lindgren, E., Källman, T., Martis, M. M., Højlund, K., Ling, C., & Stener-Victorin, E.
- Affiliations
- Lund University (SE)
- University of Skövde (SE)
- University of Gothenburg (SE)
- Karolinska Institutet (SE)
- Uppsala University (SE)
- Linköping University (SE)
- Department of Endocrinology, Odense University, Odense C, Denmark
- Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden
- ORCID
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2018-08-02
- Volume
- 103
- Issue
- 12
- Pages
- 4465-4477
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2885250903
- Cited by
- 93
- References
- 48
- Citations by year
- 2026: 9 · 2025: 12 · 2024: 7 · 2023: 19 · 2022: 15 · 2021: 12 · 2020: 10 · 2019: 8 · 2018: 1
- FWCI
- 8.27
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- other-oa
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion, other-oa)
- PubMed (publishedVersion)
- University Library of Skövde (University of Skövde) (submittedVersion, other-oa)
- Lund University Publications (Lund University) (submittedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion, other-oa)
- Funders
- Vetenskapsrådet (2014-2775, 2016-02486)
- Jane and Dan Ohlsson Foundation
- Adlerbert Research Foundation
- Novo Nordisk Fonden (NNF17OC002672)
- Karolinska Institutet
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolism, Diabetes, and Cancer
- Keywords
- polycystic ovary syndrome, skeletal muscle, insulin resistance, DNA methylation, gene expression, epigenetics, type 2 diabetes risk, KLF10, glycogen accumulation, testosterone, COL1A1, MAP2K6, immune pathways, myotubes
- MeSH terms
- Collagen Type I, alpha 1 Chain, Adult, Biopsy, Cells, Cultured, Female, Follow-Up Studies, Glycogen, Humans, Insulin, Insulin Resistance, Polycystic Ovary Syndrome, Testosterone, Down-Regulation, Case-Control Studies, Muscle, Skeletal, Muscle Fibers, Skeletal, CpG Islands, DNA Methylation, Gene Expression Profiling, Collagen Type I, Epigenesis, Genetic, MAP Kinase Kinase 6, Kruppel-Like Transcription Factors, Early Growth Response Transcription Factors, Primary Cell Culture
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