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Analysis of mitochondrial 12S rRNA and tRNA Ser(UCN) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia

  • Human Genetics
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Abstract

Mitochondrial DNA (mtDNA) mutations play an important role in etiology of hereditary hearing loss. In various regions of the world, patients suffer from nonsyndromic sensorineural hearing loss initiated by aminoglycoside antibiotics. Mutations that had been shown as pathogenetically important for hearing function disturbance were identified in mitochondrial 12S rRNA and tRNA Ser(UCN) genes while pathogenic role of several mtDNA sequences requires additional studies. Here we examined various mutations and polymorphisms in mitochondrial 12S rRNA and tRNA Ser(UCN) genes in 410 patients with nonsyndromic sensorineural hearing loss from Volga-Ural, St. Petersburg, Yakutiya and Altai regions and in 520 individuals with normal hearing, which represented several ethnic groups (Russians, Tatars, Bashkirs, Yakuts, and Altaians) dwelling in Russian Federation. The A1555 (12S rRNA) mutation, which is important in disease pathogenesis, was detected in two families from Yakutiya and St. Petersburg with a hearing loss likely induced by aminoglycoside treatment as well as in a sample of Yakut population with a frequency of 0.83%. Further studies are required to reveal the importance of the detected 961 insC, 961 insC (n), 961 delTinsC (n), T 961 G, T 1095 C (12 S rRNA), as well as G7444A and G 7444 A, A 7445 C (tRNA Ser (UCN)) mutations in the disturbance of hearing in patients. In addition, mitochondtrial DNA polymorphisms similar to those in European and Asian populations in spectrum and frequency, were revealed in the patients and the individuals from population samples.

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References

  1. Zinchenko, R.A., Morozova, A.A., Galkina, V.A., et al., Medical Genetic Study of the Population of the Republic of Bashkortostan: II. Diversity of Hereditary Pathology in Three Regions of the Republic, Med. Genet., 2007, vol. 6, no. 7, pp. 18–25.

    Google Scholar 

  2. Mehl, A. and Thompson, V., The Colorado Newborn Screening Project, 1992–1999: On the Threshold of Effective of Population Based Universal Newborn Hearing Screening, Pediatrics, 2002, vol. 109, p. E7.

    Article  PubMed  Google Scholar 

  3. Petit, C., Levilliers, J., and Hardelin, J.P., Molecular Genetics of Hearing Loss, Ann. Rev. Genet., 2001, vol. 35, pp. 589–646.

    Article  PubMed  CAS  Google Scholar 

  4. Van Camp, G. and Smith, R.J.H., Hereditary Hearing Loss Homepage: http://webhost.ua.ac.be/hhh, 2008.

  5. Fischel-Ghodsian, N., Mitochondrial Deafness Mutations Reviewed, Hum. Mutat., 1999, vol. 13, pp. 261–270.

    Article  PubMed  CAS  Google Scholar 

  6. Van Camp, G. and Smith, R.J., Maternally Inherited Hearing Impairment, Clin. Genet., 2000, vol. 57, no. 6, pp. 409–414.

    Article  PubMed  Google Scholar 

  7. MITOMAP: A Human Mitochondrial Genome Database, http://www.mitomap.org, 2007.

  8. Xing, G., Chen, Z., and Cao, X., Mitochondrial rRNA and tRNA and Hearing Function, Cell Res., 2007, vol. 17, no. 3, pp. 227–239.

    PubMed  CAS  Google Scholar 

  9. Posukh, O.L., Dzhemileva, L.U., and Khusnutdinova, E.K., Mitochondrial Mutations in Etiology of Hereditary Deafness, Med. Genet., 2008, no. 1, pp. 12–20.

  10. Estivill, X. and Govea, N., Barcelo, E., et al., Familial Progressive Sensorineural Deafness Is Mainly due to the mtDNA A1555G Mutation and Is Enhanced by Treatment of Aminoglycosides, Am. J. Hum. Genet., 1998, vol. 62, no. 1, pp. 27–35.

    Article  PubMed  CAS  Google Scholar 

  11. Reid, F.M., Vernham, G.A., and Jacobs, H.T., A Novel Mitochondrial Point Mutation in a Maternal Pedigree with Sensorineural Deafness, Hum. Mutat., 1994, vol. 3, pp. 243–247.

    Article  PubMed  CAS  Google Scholar 

  12. Hutchin, T.R., Thompson, K.R., Parker, M., et al., Prevalence of Mitochondrial DNA Mutations in Childhood/Congenital Onset Non-Syndromal Sensorineural Hearing Impairment, J. Med. Genet., 2001, vol. 38, pp. 229–231.

    Article  PubMed  CAS  Google Scholar 

  13. Ingman, M. and Gyllensten, U., MtDB: Human Mitochondrial Genome Database, a Resource for Population Genetics and Medical Sciences, Nucleic Acids Res., 2006, vol. 34, pp. 749–751.

    Article  Google Scholar 

  14. Prezant, T.R., Agapian, J.V., Bohlman, M.C., et al., Mitochondrial Ribosomal RNA Mutation Associated with Both Antibiotic-Induced and Non-Syndromic Deafness, Nat. Genet., 1993, vol. 4, pp. 289–294.

    Article  PubMed  CAS  Google Scholar 

  15. Recht, M.I., Fourmy, D., Blanchard, S.C., et al., RNA Sequence Determinants for Aminoglycoside Binding to an A-Site rRNA Model Oligonucleotide, J. Mol. Biol., 1996, vol. 262, no. 4, pp. 421–436.

    Article  PubMed  CAS  Google Scholar 

  16. Pandya, A., Xia, X.J., Erdenetungalag, R., et al., Heterogeneous Point Mutations in the Mitochondrial tRNA Ser(UCN) Precursor Coexisting with the A1555G Mutation in Deaf Students from Mongolia, Am. J. Hum. Genet., 1999, vol. 65, no. 6, pp. 1803–1806.

    Article  PubMed  CAS  Google Scholar 

  17. Usami, S., Abe, S., Akita, J., et al., Prevalence of Mitochondrial Gene Mutations among Hearing Impaired Patients, J. Med. Genet., 2000, vol. 37, pp. 38–40.

    Article  PubMed  CAS  Google Scholar 

  18. Kupka, S., Toth, T., Wrobel, M., et al., Mutation A1555G in the 12S rRNA Gene and Its Epidemiological Importance in German, Hungarian, and Polish Patients, Hum. Mutat., 2002, vol. 19, pp. 308–309.

    Article  PubMed  Google Scholar 

  19. Del Castillo, F.J., Rodriguez-Ballesteros, M., Martin, Y., et al., Heteroplasmy for the 1555A-G Mutation in the Mitochondrial 12S rRNA Gene in Six Spanish Families with Nonsyndromic Hearing Loss, J. Med. Genet., 2003, vol. 40, pp. 632–636.

    Article  PubMed  Google Scholar 

  20. Malik, S., Sudoyo, H., Sasmono, T., et al., Nonsyndromic Sensorineural Deafness Associated with the A1555G Mutation in the Mitochondrial Small Subunit Ribosomal RNA in a Balinese Family, J. Hum. Genet., 2003, vol. 48, pp. 119–124.

    Article  PubMed  CAS  Google Scholar 

  21. Tekin, M., Duman, T., Bogoclu, G., et al., Frequency of mtDNA A1555G and A7445G Mutations among Children with Prelingual Deafness in Turkey, Eur. J. Pediatr., 2003, vol. 162, no. 3, pp. 154–158.

    PubMed  CAS  Google Scholar 

  22. Li, Z., Li, R., Chen, J., et al., Mutational Analysis of the Mitochondrial 12S rRNA Gene in Chinese Pediatric Subjects with Aminoglycoside-Induced and Nonsyndromic Hearing Loss, Hum. Genet., 2005, vol. 117, pp. 9–15.

    Article  PubMed  CAS  Google Scholar 

  23. Ambreu-Silva, R.S., Lezirovitz, K., Braga, M.C.C., et al., Prevalence of the A1555G (12S rRNA) and tRNA Ser(UCN) Mitochondrial Mutations in Hearing-Impaired Brazilian Patients, Braz. J. Med. Biol. Res., 2006, vol. 39, pp. 219–226.

    Google Scholar 

  24. Guan, M.X., Yan, Q., Li, X., et al., Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations, Am. J. Hum. Genet., 2006, vol. 79, pp. 291–302.

    Article  PubMed  CAS  Google Scholar 

  25. Abe, S., Usami, S., Shinkawa, H., et al., Phylogenetic Analysis of Mitochondrial DNA in Japanese Pedigrees of Sensorineural Hearing Loss Associated with the A1555G Mutation, Eur. J. Hum. Genet., 1998, vol. 6, pp. 563–569.

    Article  PubMed  CAS  Google Scholar 

  26. Torroni, A., Cruciani, F., Rengo, C., et al., The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness, Am. J. Hum. Genet., 1999, vol. 65, pp. 1349–1358.

    Article  PubMed  CAS  Google Scholar 

  27. Li, R., Greinwald, Jr.J.H., Yang, L., et al., Molecular Analysis of the Mitochondrial 12S rRNA and tRNASer(UCN) Genes in Paediatric Subjects with Nonsyndromic Hearing Loss, J. Med. Genet., 2004, vol. 41, pp. 615–620.

    Article  PubMed  CAS  Google Scholar 

  28. Bacino, C., Prezant, T.R., Bu, X., et al., Susceptibility Mutations in the Mitochondrial Small Ribosomal RNA Gene in Aminoglycoside Induced Deafness, Pharmacogenetics, 1995, vol. 5, pp. 165–172.

    Article  PubMed  CAS  Google Scholar 

  29. Yoshida, M., Shintani, T., Hirao, M., et al., Aminoglycoside-Induced Hearing Loss in a Patient with the 961 Mutation in Mitochondrial DNA, J. Otorhinolaryngol. Relat. Spec., 2002, vol. 64, pp. 219–222.

    CAS  Google Scholar 

  30. Guan, M.X., Molecular Pathogenetic Mechanism of Maternally Inherited Deafness, Ann. N.Y. Acad. Sci., 2004, vol. 1011, pp. 259–271.

    Article  PubMed  CAS  Google Scholar 

  31. The GeneTests, http://www.genetests.org

  32. Kong, Q.P., Yao, Y.G., Sun, C., et al., Phylogeny of East Asian Mitochondrial DNA Lineages Inferred from Complete Sequences, Am. J. Hum. Genet., 2003, vol. 73, pp. 671–676.

    Article  PubMed  CAS  Google Scholar 

  33. Yao, Y.G., Salas, A., Bravi, C.M., and Bandelt, H.J., A Reappraisal of Complete mtDNA Variation in East Asian Families with Hearing Impairment, Hum. Genet., 2006, vol. 119, no. 5, pp. 505–515.

    Article  PubMed  CAS  Google Scholar 

  34. Thyagarajan, D., Bressman, S., Bruno, C., et al., A Novel Mitochondrial 12S rRNA Point Mutation in Parkinsonism, Deafness, and Neuropathy, Ann. Neurol., 2000, vol. 48, pp. 730–736.

    Article  PubMed  CAS  Google Scholar 

  35. Tessa, A., Giannotti, A., Tieri, L.T., et al., Maternally Inherited Deafness Associated with a T1095C Mutation in the mDNA, Eur. J. Hum. Genet., 2001, vol. 9, pp. 147–149.

    Article  PubMed  CAS  Google Scholar 

  36. Yuan, H., Qian, Y., Xu, Y., et al., Cosegregation of the G7444A Mutation in the Mitochondrial COI/tRNASer(UCN) Genes with the 12S rRNA A1555G Mutation in a Chinese Family with Aminoglycoside-Induced and Nonsyndromic Hearing Loss, Am. J. Med. Genet., 2005, vol. 138A, pp. 133–140.

    Article  PubMed  Google Scholar 

  37. Jin, L., Yang, A., Zhu, Y., et al., Mitochondrial tRNASer(UCN) Gene Is the Hot Spot for Mutations Associated with Aminoglycoside-Induced and Non-Syndromic Hearing Loss, Biochem. Biophys. Res. Commun., 2007, vol. 361, pp. 133–139.

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, 450054, Russia

    L. U. Dzhemilova, A. M. Tazetdinov & E. K. Khusnutdinova

  2. Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090, Russia

    O. L. Posukh

  3. Yakutsk Research Center, Russian Academy of Medical Sciences, Yakutsk, Sakha Republic (Yakutiya), 667019, Russia

    N. A. Barashkov, S. A. Fedorova & N. R. Maksimova

  4. Pavlov State Medical University, St. Petersburg, 197022, Russia

    S. A. Zhuravskii

  5. Department of Otolaryngology Kirov Military Medical College, St. Petersburg, 194044, Russia

    S. N. Ponidelko

  6. Flu Research Institute, Russian Academy of Medical Sciences, St. Petersburg, 196376, Russia

    T. G. Markova

  7. Altai Republic Children’s Hospital, Gorno-Altaisk, 649000, Russia

    V. N. Tadinova

Authors
  1. L. U. Dzhemilova
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  2. O. L. Posukh
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  3. A. M. Tazetdinov
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  4. N. A. Barashkov
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  8. V. N. Tadinova
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  9. S. A. Fedorova
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  10. N. R. Maksimova
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  11. E. K. Khusnutdinova
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Correspondence to L. U. Dzhemilova.

Additional information

Original Russian Text © L.U. Dzhemilova, O.L. Posukh, A.M. Tazetdinov, N.A. Barashkov, S.A. Zhuravskii, S.N. Ponidelko, T.G. Markova, V.N. Tadinova, S.A. Fedorova, N.R. Maksimova, E.K. Khusnutdinova, 2009, published in Genetika, 2009, Vol. 45, No. 7, pp. 982–991.

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Dzhemilova, L.U., Posukh, O.L., Tazetdinov, A.M. et al. Analysis of mitochondrial 12S rRNA and tRNA Ser(UCN) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia. Russ J Genet 45, 861–869 (2009). https://doi.org/10.1134/S1022795409070151

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  • DOI: https://doi.org/10.1134/S1022795409070151

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