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.
Russian Journal of Genetics – Springer Journals
Published: Jul 23, 2009
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