Abstract | CONCLUSION: Our data indicate that the mitochondrial 12S rRNA gene, and particularly the A827G mutation, may be associated with susceptibility to age-related hearing loss. OBJECTIVE:
Hearing loss associated with aging is common among elderly persons. In all genetic backgrounds, mitochondrial DNA ( mtDNA) mutations may be one of the most important factors contributing to aging and age-related hearing loss. The mitochondrial 12S rRNA is a hot spot for deafness-associated mutations in Chinese populations. The purpose of the present study was to elucidate the relationship of 12S rRNA gene polymorphisms and age-related hearing loss. METHODS: The 12S rRNA gene polymorphisms were detected by direct sequencing. Statistical analyses were performed to assess the associations between age-related hearing loss and 12S rRNA gene variants. RESULTS: We report here a systematic mutational screening of the mitochondrial 12S rRNA gene in 662 elderly subjects from the general population with various hearing threshold levels (211 controls and 451 age-related hearing loss subjects). Mutational screening of the mitochondrial 12S rRNA gene identified 55 nucleotide changes, including 4 mutations localized at highly conserved sites and 51 known variants. Of the known deafness-associated mutations in the mitochondrial 12S rRNA gene, the incidence of the A1555G mutation was 0.15%, A827G was 4.38%, T1095C was 0.45%, and T1005C was 3.78%. The incidence of the other known variants was 0.15-99.85%. We found statistically significant differences in the proportions of subjects with the A827G mutation among the various age-related hearing loss groups and normal controls.
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Authors | Yuhua Zhu, Jiandong Zhao, Bo Feng, Yu Su, Dongyang Kang, Huijun Yuan, Suoqiang Zhai, Pu Dai |
Journal | Acta oto-laryngologica
(Acta Otolaryngol)
Vol. 135
Issue 1
Pg. 26-34
(Jan 2015)
ISSN: 1651-2251 [Electronic] England |
PMID | 25376778
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- RNA, Ribosomal
- RNA, ribosomal, 12S
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Topics |
- Age Factors
- Aged
- Aged, 80 and over
- Asian People
(genetics)
- Case-Control Studies
- China
- Female
- Genes, Mitochondrial
(genetics)
- Genetic Predisposition to Disease
- Hearing Loss
(genetics)
- Humans
- Male
- Middle Aged
- Mutation
(genetics)
- Polymorphism, Genetic
(genetics)
- RNA, Ribosomal
(genetics)
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