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Mitochondrial Oxidative Stress, Dysfunction, and Rare Mitochondrial DNA Variants: Novel Contributors in the Pathophysiology of PCOS
CC BY 4.0 · Indian J Med Paediatr Oncol 2024; 45(S 01): S1-S16
DOI: DOI: 10.1055/s-0044-1788216
*Corresponding author: (e-mail: shuklap@nirrch.res.in).
Abstract
Background: Recently, mitochondrial dysfunction is emerging as a novel player in polycystic ovary syndrome (PCOS) pathophysiology, a major cause of infertility in reproductive age women. This study aims to evaluate mitochondrial ROS, copy number, and study the association of mitochondrial DNA (mtDNA) variants obtained using NGS with characteristics traits of PCOS.
Materials and Methods: A total of 120 participants (70 PCOS, 50 non-PCOS) were recruited. MtDNA copy number was determined using qRTPCR. Mitochondrial ROS detection was done in PBMCs by flow cytometry. SOD activity was measured by an ELISA kit. Association of mtDNA variants with characteristics traits of PCOS was done using a machine learning algorithm, unsupervised clustering.
Results: mtDNA copy number (p < 0 class="i" xss=removed>p = 0.0011), and SOD activity (p = 0.0368) were significantly decreased in the PCOS group compared to the non-PCOS group. Mitochondrial reactive oxygen species (ROS) levels were found to be enhanced in women with PCOS compared to non-PCOS women (p < 0>
Conclusion: Our study provides a better understanding toward pathogenesis of PCOS from novel aspects focusing on mitochondrial dysfunction. We here for first time showed contribution of rare mtDNA variants with characteristics traits of PCOS. This study may help in the management and development of mitochondrial-targeted therapies for PCOS, in future.
Publication History
Article published online:
08 July 2024
© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)
Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India
*Corresponding author: (e-mail: shuklap@nirrch.res.in).
Abstract
Background: Recently, mitochondrial dysfunction is emerging as a novel player in polycystic ovary syndrome (PCOS) pathophysiology, a major cause of infertility in reproductive age women. This study aims to evaluate mitochondrial ROS, copy number, and study the association of mitochondrial DNA (mtDNA) variants obtained using NGS with characteristics traits of PCOS.
Materials and Methods: A total of 120 participants (70 PCOS, 50 non-PCOS) were recruited. MtDNA copy number was determined using qRTPCR. Mitochondrial ROS detection was done in PBMCs by flow cytometry. SOD activity was measured by an ELISA kit. Association of mtDNA variants with characteristics traits of PCOS was done using a machine learning algorithm, unsupervised clustering.
Results: mtDNA copy number (p < 0 class="i" xss=removed>p = 0.0011), and SOD activity (p = 0.0368) were significantly decreased in the PCOS group compared to the non-PCOS group. Mitochondrial reactive oxygen species (ROS) levels were found to be enhanced in women with PCOS compared to non-PCOS women (p < 0>
Conclusion: Our study provides a better understanding toward pathogenesis of PCOS from novel aspects focusing on mitochondrial dysfunction. We here for first time showed contribution of rare mtDNA variants with characteristics traits of PCOS. This study may help in the management and development of mitochondrial-targeted therapies for PCOS, in future.
No conflict of interest has been declared by the author(s).
Publication History
Article published online:
08 July 2024
© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)
Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India