title: [The role of genetic mutations in the patents with the acquired forms of sensorineural impairment of hearing].
abstract: The objective of the present work was to study the role of GST genes in pathogenesis of various neurodegenerative conditions with special reference to sensorineural impairment of hearing. The DNA samples obtained from 200 subjects were available for the investigation; 109 of them were the patients hospitalized in the otorhinolaryngologcal clinic of S.M. Kirov Military Medical Academy for the treatment of uni- or bilateral impairment of hearing. The polymerase chain reaction with subsequent specific restriction endonuclease analysis was used to study genetic mutations. The analysis was focused on the 35delG mutation in the GJB2 gene (DFNB1). In addition, the MTRNR1 (12S rRNA) and MTTS1 (serine tRNA) genes in the patients with acquired sensorineural impairment of hearing were subjected to analysis. Polymorphism of the second detoxication phase gene (GSTM1) was investigated. It was shown that mitochondrial genes MTRNR1 and MTTS1 contribute to the development of acquired sensorineural impairment of hearing. The frequency of heterozygous 35delG mutations of the GJB2 (DFNB1) gene among the subjects with impaired hearing does not significantly differ from its prevalence in the general population. The allelic mutation of the GSTM1 gene is believed to be a predisposing factor for the development of sensorineural impairment of hearing under the action of intoxication and/or infections.
authors.forename: L A
authors.initials: LA
authors.lastname: Glaznikov
authors.forename: S N
authors.initials: SN
authors.lastname: Ponidelko
authors.forename: M I
authors.initials: MI
authors.lastname: Govorun
mesh_terms: D000328:Adult; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D059647:Gene-Environment Interaction; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005982:Glutathione Transferase / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006320:Hearing Tests / Q000379:methods; D006801:Humans; D008297:Male; D017354:Point Mutation; D011110:Polymorphism, Genetic; D015995:Prevalence
chemical_list: D000072259:Connexin 26; D017630:Connexins; D005982:Glutathione Transferase; C000607042:GJB2 protein, human