Analysis of mitochondrial DNA sequence variants in patients with polycystic ovary syndrome
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To understand the role of mitochondrial DNA (mtDNA) mutations in patients with polycystic ovary syndrome (PCOS).
A total of 57 women with PCOS and 38 controls were recruited in this study, mutational analysis of mitochondrial genome was performed using polymerase chain reaction and under a direct sequence analysis.
Sequence characterization of mitochondrial genome showed a distinct set of polymorphisms mainly focused on oxidative phosphorylation (OXPHOS) complex, in addition, six variants in mitochondrial tRNA genes, including tRNAGln, tRNACys, tRNAAsp, tRNALys, tRNAArg and tRNAGlu were also identified in PCOS patients. Interestingly, these variants occurred at highly conserved nucleotides of corresponding tRNAs, which are important for tRNA stability level and biochemical function.
Mutations in mtDNA, especially the OXPHOS complex and tRNAs, may be associated with PCOS patients, thus, our results shed new insight into the pathogenesis of PCOS.
KeywordsPCOS Mitochondrial DNA mutation tRNA gene OXPHOS
We thanked the patients for participating in this study. We are grateful to Dr. Hong Chen for critical reading of this manuscript. This work was supported by the grant from Nature Science Foundation from Zhejiang Province (No. Y204327).
Conflict of interest
The authors declare that they have no conflict of interest.
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