Analysis of mitochondrial 12S rRNA and tRNA Ser(UCN) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia
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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DOI：
10.1134/s1022795409070151
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发表时间：
2009-07-01
影响因子：
0.6
通讯作者：
Khusnutdinova, E. K.
中科院分区：
文献类型：
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作者：
Dzhemilova, L. U.;Posukh, O. L.;Khusnutdinova, E. K.
线粒体DNA（mitochondrialDNA，mtDNA）突变在遗传性耳聋的病因学中起重要作用。在世界各个地区，患者患有由氨基糖苷类抗生素引起的非综合征性感音神经性听力损失。线粒体12S rRNA和tRNA（Ser（UCN））基因中的突变已被证明对听力功能障碍具有重要的致病作用，而几个mtDNA序列的致病作用需要进一步研究。在这里，我们研究了410例来自伏尔加-乌拉尔、彼得堡、雅库特和阿尔泰地区的非综合征性感音神经性听力损失患者和520例听力正常的个体的线粒体12 S rRNA和tRNA（Ser（UCN））基因的各种突变和多态性，这些患者代表了居住在俄罗斯联邦的几个民族（俄罗斯人、鞑靼人、巴什基尔人、雅库特人和阿尔泰人）。在雅库特和彼得堡的两个家庭中检测到A1555（12 S rRNA）突变，该突变在疾病发病机制中具有重要意义，可能由氨基糖苷类药物治疗引起听力损失，以及雅库特人群样本中的频率为0.83%。961 insC、961 insC（n）、961 delTinsC（n）、T961 G、T1095 C（12 S rRNA）以及G7444 A和G7444 A、A7445 C（tRNA（Ser（UCN）突变在听力障碍中的重要性有待进一步研究。此外，线粒体DNA多态性的频谱和频率与欧洲和亚洲人群相似，在患者和人群样本中的个人。
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.