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Article

Analysis of mitochondrial A1555G mutation in infants with hearing impairment

  • Authors:
    • Lihua Wu
    • Ruiyu Li
    • Juan Chen
    • Yanping Chen
    • Meijun Yang
    • Qing Wu
  • View Affiliations / Copyright

    Affiliations: Department of Otolaryngology, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou, Fujian 350001, P.R. China, Department of Obstetrics, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou, Fujian 350001, P.R. China, Department of Neonatology, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou, Fujian 350001, P.R. China, Department of Neonatology, Fujian Provincial Maternal and Child Health Care Hospital, Fuzhou, Fujian 350001, P.R. China
    Copyright: © Wu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 5307-5313
    |
    Published online on: April 18, 2018
       https://doi.org/10.3892/etm.2018.6078
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Abstract

Mutations in the mitochondrial 12S ribosomal RNA gene have been identified to be associated with deafness. Among these, the A to G transition at position 1555 is one of the most common pathogenic mutations associated with hearing loss. In order to evaluate the allele frequency of this mutation in infants with hearing loss, the A1555G mutation was screened in 300 deaf children and 100 age‑ and sex‑matched healthy subjects. Consequently, 5 patients with this mutation were identified, whereas the mutation was absent in healthy controls. Among the patients with the mutation, only one had an obvious family history of hearing impairment. Notably, this pedigree manifested a high penetrance of deafness. In particular, the penetrance of deafness was 80 and 40%, when the aminoglycoside antibiotics (AmAn) was included or excluded, respectively. Clinical evaluation of this family exhibited a wide degree of hearing loss. Furthermore, screening for the complete mitochondrial genes revealed the occurrence of A1555G and transfer (t)RNAThr T15943C mutations, together with other genetic variations belonging to East Asian haplogroup C. Notably, the T15943C mutation, located at the T arm of tRNAThr, could disrupt the 63T‑55A base‑pairing and impair tRNA metabolism. Therefore, it was hypothesized that the combination of A1555G and T15943C mutations may result in mitochondrial dysfunction that is responsible for deafness. Screening for A1555G, as well as other potential pathogenic mutations in the mitochondrial genome, is critical for clinical diagnosis and prevention of hearing impairment.
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Copy and paste a formatted citation
Spandidos Publications style
Wu L, Li R, Chen J, Chen Y, Yang M and Wu Q: Analysis of mitochondrial A1555G mutation in infants with hearing impairment. Exp Ther Med 15: 5307-5313, 2018.
APA
Wu, L., Li, R., Chen, J., Chen, Y., Yang, M., & Wu, Q. (2018). Analysis of mitochondrial A1555G mutation in infants with hearing impairment. Experimental and Therapeutic Medicine, 15, 5307-5313. https://doi.org/10.3892/etm.2018.6078
MLA
Wu, L., Li, R., Chen, J., Chen, Y., Yang, M., Wu, Q."Analysis of mitochondrial A1555G mutation in infants with hearing impairment". Experimental and Therapeutic Medicine 15.6 (2018): 5307-5313.
Chicago
Wu, L., Li, R., Chen, J., Chen, Y., Yang, M., Wu, Q."Analysis of mitochondrial A1555G mutation in infants with hearing impairment". Experimental and Therapeutic Medicine 15, no. 6 (2018): 5307-5313. https://doi.org/10.3892/etm.2018.6078
Copy and paste a formatted citation
x
Spandidos Publications style
Wu L, Li R, Chen J, Chen Y, Yang M and Wu Q: Analysis of mitochondrial A1555G mutation in infants with hearing impairment. Exp Ther Med 15: 5307-5313, 2018.
APA
Wu, L., Li, R., Chen, J., Chen, Y., Yang, M., & Wu, Q. (2018). Analysis of mitochondrial A1555G mutation in infants with hearing impairment. Experimental and Therapeutic Medicine, 15, 5307-5313. https://doi.org/10.3892/etm.2018.6078
MLA
Wu, L., Li, R., Chen, J., Chen, Y., Yang, M., Wu, Q."Analysis of mitochondrial A1555G mutation in infants with hearing impairment". Experimental and Therapeutic Medicine 15.6 (2018): 5307-5313.
Chicago
Wu, L., Li, R., Chen, J., Chen, Y., Yang, M., Wu, Q."Analysis of mitochondrial A1555G mutation in infants with hearing impairment". Experimental and Therapeutic Medicine 15, no. 6 (2018): 5307-5313. https://doi.org/10.3892/etm.2018.6078
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