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Molecular characterization of a pedigree carrying the hypertension‑associated mitochondrial tRNAGln T4363C mutation

  • Authors:
    • Lei Wang
    • Zhibing Dong
    • Wenhui Lin
    • Ranran Gao
    • Caiming Chen
    • Jinzhong Xu
  • View Affiliations / Copyright

    Affiliations: Department of Cardiology, Hanchuan People's Hospital, Hanchuan, Hubei 431600, P.R. China, Department of Cardiology, The Affiliated Wenling Hospital, Wenzhou Medical University, Wenzhou, Zhejiang 317500, P.R. China, Department of Clinical Pharmacy, The Affiliated Wenling Hospital, Wenzhou Medical University, Wenzhou, Zhejiang 317500, P.R. China
    Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 6029-6033
    |
    Published online on: August 28, 2017
       https://doi.org/10.3892/mmr.2017.7371
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Abstract

Mitochondrial DNA mutations have been reported to be associated with essential hypertension. The present study reported the clinical and molecular features of a Chinese pedigree with maternally inherited hypertension. A total of 6 matrilineal relatives in this pedigree presented with variable degrees of hypertension; the age of onset ranged between 39 and 63 years, and the average age of onset was 53 years. Analysis of the mitochondrial genome in members of this family demonstrated the occurrence of a homoplasmic T4363C mutation in the transfer (t)RNAGln gene and 25 genetic polymorphisms belonging to mitochondrial haplogroup B4. Notably, the T4363C mutation was localized at the anticodon stem of tRNAGln, which is highly conserved across various species (conventional position 38). To determine its potential pathogenicity, RNA Fold software was used to predict the secondary structure of tRNAGln with and without this mutation. The results indicated that the T4363C mutation induced a significant alteration in the secondary structure of tRNAGln, and may reduce the steady‑state levels of tRNAGln. Furthermore, matrilineal relatives carrying the T4363C mutation exhibited different age of onset and variable degrees of blood pressure, thus indicating that the T4363C mutation itself was insufficient to produce the clinical phenotype. Therefore, other modified factors, including environmental factors, and nuclear gene and epigenetic modifications, may be involved in the pathogenesis of hypertension. In conclusion, the present study provided valuable information regarding the association between tRNA mutations and hypertension.
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Copy and paste a formatted citation
Spandidos Publications style
Wang L, Dong Z, Lin W, Gao R, Chen C and Xu J: Molecular characterization of a pedigree carrying the hypertension‑associated mitochondrial tRNAGln T4363C mutation. Mol Med Rep 16: 6029-6033, 2017.
APA
Wang, L., Dong, Z., Lin, W., Gao, R., Chen, C., & Xu, J. (2017). Molecular characterization of a pedigree carrying the hypertension‑associated mitochondrial tRNAGln T4363C mutation. Molecular Medicine Reports, 16, 6029-6033. https://doi.org/10.3892/mmr.2017.7371
MLA
Wang, L., Dong, Z., Lin, W., Gao, R., Chen, C., Xu, J."Molecular characterization of a pedigree carrying the hypertension‑associated mitochondrial tRNAGln T4363C mutation". Molecular Medicine Reports 16.5 (2017): 6029-6033.
Chicago
Wang, L., Dong, Z., Lin, W., Gao, R., Chen, C., Xu, J."Molecular characterization of a pedigree carrying the hypertension‑associated mitochondrial tRNAGln T4363C mutation". Molecular Medicine Reports 16, no. 5 (2017): 6029-6033. https://doi.org/10.3892/mmr.2017.7371
Copy and paste a formatted citation
x
Spandidos Publications style
Wang L, Dong Z, Lin W, Gao R, Chen C and Xu J: Molecular characterization of a pedigree carrying the hypertension‑associated mitochondrial tRNAGln T4363C mutation. Mol Med Rep 16: 6029-6033, 2017.
APA
Wang, L., Dong, Z., Lin, W., Gao, R., Chen, C., & Xu, J. (2017). Molecular characterization of a pedigree carrying the hypertension‑associated mitochondrial tRNAGln T4363C mutation. Molecular Medicine Reports, 16, 6029-6033. https://doi.org/10.3892/mmr.2017.7371
MLA
Wang, L., Dong, Z., Lin, W., Gao, R., Chen, C., Xu, J."Molecular characterization of a pedigree carrying the hypertension‑associated mitochondrial tRNAGln T4363C mutation". Molecular Medicine Reports 16.5 (2017): 6029-6033.
Chicago
Wang, L., Dong, Z., Lin, W., Gao, R., Chen, C., Xu, J."Molecular characterization of a pedigree carrying the hypertension‑associated mitochondrial tRNAGln T4363C mutation". Molecular Medicine Reports 16, no. 5 (2017): 6029-6033. https://doi.org/10.3892/mmr.2017.7371
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