Abstract Conclusion: Our data indicate that the mitochondrial 12S rRNA gene, and particularly the @entity45090 mutation, may be associated with susceptibility to age-related @entity393 . OBJECTIVE: @entity393 associated with aging is common among elderly @entity1 . In all genetic backgrounds, mitochondrial DNA (mtDNA) mutations may be one of the most important factors contributing to aging and age-related @entity393 . The mitochondrial 12S rRNA is a hot spot for @entity2319 -associated mutations in Chinese populations. The purpose of the present study was to elucidate the relationship of 12S rRNA gene polymorphisms and age-related @entity393 . METHODS: The 12S rRNA gene polymorphisms were detected by direct sequencing. Statistical analyses were performed to assess the associations between age-related @entity393 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 @entity393 subjects). Mutational screening of the mitochondrial 12S rRNA gene identified 55 @entity377 changes, including 4 mutations localized at highly conserved sites and 51 known variants. Of the known @entity2319 -associated mutations in the mitochondrial 12S rRNA gene, the incidence of the @entity14505 mutation was 0.15%, @entity45090 was 4.38%, @entity17664 was 0.45%, and @entity68358 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 @entity45090 mutation among the various age-related @entity393 groups and normal controls.

Mutations in the mitochondrial 12S rRNA gene in elderly Chinese XXXX .

@entity1 :: ('9606', 'Species') :: ['persons'] @entity45090 :: ('c|SUB|A|827|G', 'DNAMutation') :: ['A827G'] @entity377 :: ('CHEBI:36976', 'Chemical') :: ['nucleotide'] @entity2319 :: ('MESH:D003638', 'Disease') :: ['deafness'] @entity17664 :: ('c|SUB|T|1095|C', 'DNAMutation') :: ['T1095C'] @entity14505 :: ('c|SUB|A|1555|G', 'DNAMutation') :: ['A1555G'] @entity393 :: ('MESH:D034381', 'Disease') :: ['hearing loss', 'Hearing loss'] @entity68358 :: ('c|SUB|T|1005|C', 'DNAMutation') :: ['T1005C']
@entity1 :: (9606,Species) :: ['people']
