Frequency of m.1555a>g mutation in MT-RNR1 gene of mitochondrial DNA among deaf individuals in Yakutia

It has been established that the mutation m.1555A>G in the MT-RNR1 gene in the homoplasmic state is associated with non-syndromic sensorineural hearing loss caused by the use of aminoglycoside antibiotics in many families of different ethnic origin. Earlier, the m.1555A>G mutation was detected on a small sample of patients (n = 65) in Yakutia with a frequency of 1.54%. In this study, we performed a search of the m.1555A>G mutation among additional sample of 108 hearing impaired individuals from Yakutia (Eastern Siberia, Russia). As a result, we found no mutation in this sample. When combining both samples (n=65 and n=108), the m.1555A>G mutation frequency in Yakutia is – 0.57% (1/173), and among the Yakut patients frequency of this mutation is 0.92% (1/108). The frequency of the m.1555A>G mutation among deaf patients in Yakutia is 0.57%, and is relatively low when compared with the global data.

1. Analysis of mitochondrial 12S rRNA and tRNASer(UCN) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia / L. U. Dzhemilova. O. L. Posukh. A. M. Tazetdinov [et al] // Russian Journal of Genetics. – 2009. – № 7. – P. 861-869.

2. Analysis of a large-scale screening of mitochondrial DNA m.1555A>G mutation in 2417 deaf-mute students in northwest of China / Y.F. Guo, X.W. Liu, B.C. Xu [et al] // Genet Test Mol Biomarkers. – 2010. – № 4. – P. 527-531.

3. Avent M.L. Current use of aminoglycosides: indications, pharmacokinetics and monitoring for toxicity / M.L. Avent, B.A. Rogers, A.C. Cheng, D.L. Paterson. // Intern Med J. – 2011. – № 6. – P. 441-449.

4. Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss / R. Li, G. Xing, M. Yan [et al] // Am J Med Genet A. – 2004. – № 2. – P. 113-117.

5. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides / X. Estivill, N. Govea, E. Barcelу [et al] // Am J Hum Genet. – 1998. – № 1. – P. 27-35.

6. Hamasaki K. Specific binding of aminoglyco-sides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness / K. Hamasaki, R.R. Rando // Biochemistry. – 1997. – №36. – P.12323-12328.

7. Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss / F.J. del Castillo, M. Rodrнguez-Ballesteros, Y. Martнn [et al] // J Med Genet. – 2003. – № 8. – P. 632-636.

8. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and nonsyndromic deafness / T.R. Prezant, J.V. Agapian, M.C. Bohlman [et al] // Nat Genet. – 1993. – № 3. – P. 289-294.

9. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss / Z. Li, R. Li, J. Chen [et al] // Hum. Genet. – 2005. – № 1. – P. 9-15.

10. Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation / N. Lуpez-Bigas, R. Rabionet, E. Martinez [et al] // Am J Hum Genet. – 2000. – № 4. – P. 1465-1467.

11. Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies / J.S. Nye, E.A. Hayes, M. Amendola [et al] // Teratology. – 2000. – № 61. – P. 165-171.

12. Prevalence of mitochondrial gene mutations among hearing impaired patients / S. Usami, S. Abe, J. Akita [et al] // J Med Genet. – 2000. – № 1. – P. 38-40.

13. Prevalence of the A1555G (12S rRNA) and tRNA Ser(UCN) mitochondrial mutations in hearing-impaired Brazilian patients / R.S. AbreuSilva, K. Lezirovitz, M.C.C. Braga [et al.] // Braz J Med Biol Res. – 2006. – № 2. – P. 219–226.

14. Prevalence of the mitochondrial A1555G mutation in Moroccan patients with nonsyndromic hearing loss / H. Nahili, M. Charif, R. Boulouiz [et al] // Int J Pediatr Otorhinolaryngol. – 2010. – № 9. – P. 1071-1074.

15. Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia / S.G. Malik, N. Pieter, H. Sudoyo [et al] // J Hum Genet. – 2003. – № 9. – P. 480-483.

16. Selimoglu, E. Aminoglycoside-induced ototoxicity / E. Selimoglu // Curr Pharm Des. – 2007. – № 1. – P. 119-126.

17. Waardenburg, P.J. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness / P.J. Waardenburg // Am J Hum Genet. – 1951. – № 3. – P. 195-253.http://www.who.int/mediacentre/factsheets/fs300/en/