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April-2016 Volume 13 Issue 4

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Article

Point mutation in mitochondrial tRNA gene is associated with polycystic ovary syndrome and insulin resistance

  • Authors:
    • Yu Ding
    • Guangchao Zhuo
    • Caijuan Zhang
    • Jianhang Leng
  • View Affiliations / Copyright

    Affiliations: Central Laboratory, Hangzhou First People's Hospital Affiliated to Nanjing Medical University, Hangzhou, Zhejiang 310006, P.R. China
  • Pages: 3169-3172
    |
    Published online on: February 19, 2016
       https://doi.org/10.3892/mmr.2016.4916
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Abstract

Polycystic ovarian syndrome (PCOS) is characterized by chronic anovulation, hyperandrogenism and polycystic ovaries. To date, the molecular mechanisms underlying PCOS have remained to be fully elucidated. As recent studies have revealed a positive association between mitochondrial dysfunction and PCOS, current investigations focus on mutations in the mitochondrial genome of patients with POCS. The present study reported a Chinese patient with PCOS. Sequence analysis of the mitochondrial genome showed the presence of homoplasmic ND5 T12338C and tRNASer (UCN) C7492T mutations as well as a set of polymorphisms belonging to the human mitochondrial haplogroup F2. The T12338C mutation is known to decrease the ND5 mRNA levels and to inhibit the processing of RNA precursors. The C7492T mutation, which occurred at the highly conserved nucleotide in the anticodon stem of the tRNASer (UCN) gene, is important for the tRNA steady‑state level as well as the aminoacylation ability. Therefore, the combination of the ND5 T12338C and tRNASer (UCN) C7492T mutations may lead to mitochondrial dysfunction, and is likely to be involved in the pathogenesis of PCOS. The present study provided novel insight into the molecular mechanisms of PCOS.
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Copy and paste a formatted citation
Spandidos Publications style
Ding Y, Zhuo G, Zhang C and Leng J: Point mutation in mitochondrial tRNA gene is associated with polycystic ovary syndrome and insulin resistance. Mol Med Rep 13: 3169-3172, 2016.
APA
Ding, Y., Zhuo, G., Zhang, C., & Leng, J. (2016). Point mutation in mitochondrial tRNA gene is associated with polycystic ovary syndrome and insulin resistance. Molecular Medicine Reports, 13, 3169-3172. https://doi.org/10.3892/mmr.2016.4916
MLA
Ding, Y., Zhuo, G., Zhang, C., Leng, J."Point mutation in mitochondrial tRNA gene is associated with polycystic ovary syndrome and insulin resistance". Molecular Medicine Reports 13.4 (2016): 3169-3172.
Chicago
Ding, Y., Zhuo, G., Zhang, C., Leng, J."Point mutation in mitochondrial tRNA gene is associated with polycystic ovary syndrome and insulin resistance". Molecular Medicine Reports 13, no. 4 (2016): 3169-3172. https://doi.org/10.3892/mmr.2016.4916
Copy and paste a formatted citation
x
Spandidos Publications style
Ding Y, Zhuo G, Zhang C and Leng J: Point mutation in mitochondrial tRNA gene is associated with polycystic ovary syndrome and insulin resistance. Mol Med Rep 13: 3169-3172, 2016.
APA
Ding, Y., Zhuo, G., Zhang, C., & Leng, J. (2016). Point mutation in mitochondrial tRNA gene is associated with polycystic ovary syndrome and insulin resistance. Molecular Medicine Reports, 13, 3169-3172. https://doi.org/10.3892/mmr.2016.4916
MLA
Ding, Y., Zhuo, G., Zhang, C., Leng, J."Point mutation in mitochondrial tRNA gene is associated with polycystic ovary syndrome and insulin resistance". Molecular Medicine Reports 13.4 (2016): 3169-3172.
Chicago
Ding, Y., Zhuo, G., Zhang, C., Leng, J."Point mutation in mitochondrial tRNA gene is associated with polycystic ovary syndrome and insulin resistance". Molecular Medicine Reports 13, no. 4 (2016): 3169-3172. https://doi.org/10.3892/mmr.2016.4916
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