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

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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

Content Provider	Springer Nature Link
Author	Dzhemilova, L. U. Posukh, O. L. Tazetdiv, A. M. Barashkov, N. A. Zhuravskii, S. A. Ponidelko, S. N. Markova, T. G. Tadiva, V. N. Fedorova, S. A. Maksimova, N. R. Khusnutdiva, E. K.
Copyright Year	2009
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.
Starting Page	861
Ending Page	869
Page Count	9
File Format	PDF
ISSN	10227954
Journal	Russian Journal of Genetics
Volume Number	45
Issue Number	7
e-ISSN	16083369
Language	English
Publisher	SP MAIK Nauka/Interperiodica
Publisher Date	2009-07-23
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Microbial Genetics and Genomics Animal Genetics and Genomics Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics

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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

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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

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