Analysis of mutations in mitochondrial transfer RNA genes and the maternal inheritance of polycystic ovary syndrome
Our study identified novel variations in mt-tRNA genes in Pakistani women with PCOS. To our knowledge, this is the first report comparing mutations of mt-tRNA genes in PCOS patients across different ethnic groups. Our data revealed common mt-tRNA genes carrying PCOS-associated mutations that may be specific to certain ethnic populations. Together, our work provides new insights into the role of mt-tRNA genes in mitochondrial dysfunction underlying the pathophysiology of PCOS, highlighting mt-tRNA mutations as potential factors for future predisposition tests and more effective therapies for this globally prevalent condition.
Authors
- Shaheen Bibi
- Aziz Ud-Din (ORCID: https://orcid.org/0000-0001-6572-1149)
- Rukhsana Gul (ORCID: https://orcid.org/0000-0003-0454-864X)
- Tanzeela Nawaz
- Sidra Tabassum (ORCID: https://orcid.org/0009-0000-6069-8795)
- Li X (ORCID: https://orcid.org/0000-0003-1952-3445)
- Abdur Rehman (ORCID: https://orcid.org/0000-0003-0661-4073)
- Ghulam Abbas (ORCID: https://orcid.org/0000-0002-2741-994X)
- Tahir Hussain Awan
- Sajid Ul Ghafoor
- Humaira Zahoor
- Sefealem Assefa Belay
Institutions
- China Medical University (TW)
- The University of Agriculture, Peshawar (PK)
- Hazara University (PK)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2025-02-18
- DOI
- https://doi.org/10.3389/fendo.2025.1509791
- Citations
- 3
- Primary Topic
- Reproductive Biology and Fertility
- Type
- article
- Field-Weighted Citation Impact
- 5.64
Funders
- China Medical University
- National Science and Technology Council