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Analysis of mitochondrial DNA sequence variants in patients with polycystic ovary syndrome

  • General Gynecology
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Abstract

Purpose

To understand the role of mitochondrial DNA (mtDNA) mutations in patients with polycystic ovary syndrome (PCOS).

Methods

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.

Results

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.

Conclusions

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.

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Acknowledgments

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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Authors and Affiliations

  1. Central Laboratory, Hangzhou First People’s Hospital, Hangzhou, 310006, Zhejiang, China

    Guangchao Zhuo & Yu Ding

  2. Department of Gynecology and Obstetrics, Hangzhou First People’s Hospital, Hangzhou, 310006, Zhejiang, China

    Guofang Feng & Lin Yu

  3. The Affiliated Hangzhou Hospital, Nanjing Medical University, Nanjing, 310006, Zhejiang, China

    Guangchao Zhuo, Yu Ding, Guofang Feng & Lin Yu

  4. Department of Infectious Diseases, Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, Hangzhou, 310006, Zhejiang, China

    Yan Jiang

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  1. Guangchao Zhuo
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  2. Yu Ding
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  3. Guofang Feng
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  4. Lin Yu
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Corresponding author

Correspondence to Guangchao Zhuo.

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Zhuo, G., Ding, Y., Feng, G. et al. Analysis of mitochondrial DNA sequence variants in patients with polycystic ovary syndrome. Arch Gynecol Obstet 286, 653–659 (2012). https://doi.org/10.1007/s00404-012-2358-7

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  • DOI: https://doi.org/10.1007/s00404-012-2358-7

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