A local focus of accumulation of the mitochondrial form of hearing loss in Even-Bytantaysky district of Yakutia
https://doi.org/10.25789/YMJ.2022.80.24
Abstract
Previously, the m.1555A>G mutation in the MT-RNR1 gene associated with the mitochondrial form of hearing loss was detected in one patient from Eveno-Bytantaisky district of Yakutia. The aim of this work is to study the mitochondrial form of hearing loss in this region of Yakutia, which probably has a local focus of accumulation of the m.1555A>G mutation in the MT-RNR1 gene. In the work, a clinical-genealogical, clinical-audiological and molecular-genetic examination of 72 residents of Eveno-Bytantaisky district was carried out for the presence of the m.1555A>G mutation in the MT-RNR1 gene of mitochondrial DNA. As a result of molecular genetic analysis, among the examined individuals, the m.1555A>G mutation was found in 6 people. Clinical and genealogical analysis, carried out up to the fifth generation, revealed that these six individuals belong to three families (including 25 deaf people). In the examined individuals with the m.1555A>G mutation of the MT-RNR1 gene, clinical phenotype variability was revealed - from normal hearing to bilateral hearing loss of III degree, with a late debut (onset from 30 to 60 years). The revealed variability is probably due to incomplete penetrance and requires further extensive research aimed at searching for genes that modulate nuclear or mitochondrial genomes.
About the Authors
V. G. Pshennikova
Yakut Science Centre of Complex Medical Problems
Russian Federation
Russian Federation
Pshennikova Vera Gennadievna – PhD in Biology, external researcher, head of the lab.
F. M. Teryutin
Yakut Science Centre of Complex Medical Problems
Russian Federation
Russian Federation
Teryutin Fyodor Mikhailovich – PhD, external reseacher
G. P. Romanov
Yakut Science Centre of Complex Medical Problems
Russian Federation
Russian Federation
Romanov Georgy Prokopievich – researcher
A. V. Solovyov
Yakut Science Centre of Complex Medical Problems
Russian Federation
Russian Federation
Solovyov Aisen Vasilyevich – PhD in Biology, researcher
N. A. Barashkov
Yakut Science Centre of Complex Medical Problems
Russian Federation
Russian Federation
Barashkov Nikolay Alekseevich – PhD in Biology, external researcher, head of the lab.
References
1. Dzhemilova L.U., Posukh O.L., Tazetdinov A.M. [et al.] Analiz genov 12SrRNA i tRNAser(ucn) mtDNK u bol'nyh nesindromal'noj sensonevral'noj tugouhost'yu/gluhotoj iz razlichnyh regionov Rossii [Analysis of mitochondrial 12S rRNA and tRNASer(UCN) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia. Russian Journal of Genetics. 2009; 7: 861-869 (In Russ.).]
2. Romanov G.P., Barashkov N.A., Teryutin F.M. [et al.] Chastota mutacii m.1555A>G gena MT-RNR1 mitohondrial'noj DNK u individuumov s narusheniyami sluha v YAkutii [Frequency of m.1555A>G mutation in MT-RNR1 gene of mitochondrial DNA among deaf individuals in Yakutia. Yakut Medical Journal. 2017; 3(59): 49–51 (In Russ.).]
3. Mehl A., Thompson V. The Colorado newborn screening project, 1992-1999: on the threshold of effective of population based universal newborn hearing screening. Pediatrics. 2002; 109(1): E7.
4. Marazita M.L., Ploughman L.M., Rawlings B. [et al.]Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am. J. Med. Genet. 1993; 46(5): 486-491.
5. Morton, P.C., Nance W.E. Newborn Hearing Screening. A Silent Revolution. New England Journal of Medicine. 2006; 20(354): 2151–2164. doi: 10.1056/NEJMra050700.
6. 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; 3: 289-294.
7. Hamasaki K., Rando R.R. Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness. Biochemistry. 1997; 36: 12323-12328.
8. Estivill X., Govea N., Barceló 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; 1: 27-35.
9. Avent M.L., Rogers B.A., Cheng A.C., Paterson D.L. Current use of aminoglycosides: indications, pharmacokinetics and monitoring for toxicity. Intern Med J. 2011; 6: 441-449.
10. Li R., Xing G., Yan M. [et al.] 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. Am J Med Genet A. 2004; 2: 113-117.
11. Li Z., Li R., Chen J. [et al.] Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss. Hum. Genet. 2005; 1: 9-15.
12. Selimoglu E. Aminoglycoside-induced ototoxicity. Curr Pharm Des. 2007; 1: 119-126.
13. Bykhovskaya Y, Estivill X., Taylor K., [et al.] Candidate locus for a nuclear modifier gene for maternally inherited deafness. Am. J. Hum. Genet. 2000; 66: 1905-1910.
14. S. Usami, S. Abe, J. Akita [et al.]. Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet. 2000.; 1: 38-40.
15. 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; 6: 563–569.
16. 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; 65: 1349–1358.
17. López-Bigas N., Rabionet R., Martinez E. [et al.] 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 / // Am J Hum Genet. 2000; 4: 465-1467.
18. Nahili H., Charif M., Boulouiz R. [et al.] Prevalence of the mitochondrial A1555G mutation in Moroccan patients with non-syndromic hearing loss. Int J Pediatr Otorhinolaryngol. 2010; 9: 1071-1074.
19. Guo Y.F., Liu X.W., Xu B.C. [et al.]Analysis of a large-scale screening of mitochondrial DNA m.1555A>G mutation in 2417 deaf-mute students in northwest of China. Genet Test Mol Biomarkers. 2010; 4: 527-531.
20. Malik S.G., Pieter N., Sudoyo H. [et al.] Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. J Hum Genet. 2003; 9: 480-483.
21. Usami S., Abe S., Akita J. [et al.] Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet. 2000; 1: 38-40.
22. Fisher R.A. Еhe effect of methods of ascertainment upon the estimation of frequencies. Ann. Eugen. 1934; 6: 13. https://doi.org/10.1111/j.1469-1809.1934.tb02105.x.
23. Smith C.A. A note on the effects of method of ascertainment on segregation ratios. Ann Hum Genet. 1959; 23: 311-323.
24. Моrton N.E. Genetic tests under incomplete ascertainment. Am. J. Hum. Genet. 1959; 11(1): 1-16.
25. Del Castillo F.J., Rodríguez-Ballesteros M., Martín Y. [et al.] Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. J Med Genet. 2003; 8: 632-636.
Review
For citations:
Pshennikova V.G., Teryutin F.M., Romanov G.P., Solovyov A.V., Barashkov N.A. A local focus of accumulation of the mitochondrial form of hearing loss in Even-Bytantaysky district of Yakutia. Yakut Medical Journal. 2022;(4):91-95. https://doi.org/10.25789/YMJ.2022.80.24
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