title: Mitochondrial tRNAThr 15891C>G mutation was not associated with Leber's hereditary optic neuropathy in Han Chinese patients.
abstract: Mutations in mitochondrial DNA (mtDNA) were the most important causes of Leber's hereditary optic neuropathy (LHON). To date, approximately 25 LHON-associated mtDNA mutations have been identified in various ethnic populations. Three primary mutations, the 3460G > A, 11778G > A and 14484T > C, in genes encoding the subunits of respiratory chain complex I, were the most common LHON-associated mtDNA mutations. Moreover, secondary mutations in mt-tRNA genes have been reported increasingly to be associated with LHON, simply due to the high mutation rates of mt-tRNAs. There is a lack of functional analysis and a poor genetic evaluation of a certain mt-tRNA mutation, which failed to meet the classic pathogenicity scoring system. As a result, how to classify a pathogenic mutation in mt-tRNA gene became important for both geneticist and clinician to diagnosis the LHON or the suspicious of LHON. In this study, we reassessed the role of a point mutation in mt-tRNA(Thr) gene which had been reported to be a mutation associated with LHON, the pathogenicity of this mutation has been discussed in this context.
authors.affiliation: a Department of Pathology , Second affiliated hospital of Zhejiang University , Hangzhou , China .
authors.forename: Zhaochang
authors.initials: Z
authors.lastname: Jiang
authors.affiliation: b Department of Cardiology , Xiaoshan First People's Hospital , Hangzhou , China .
authors.forename: Jinfang
authors.initials: J
authors.lastname: Yu
authors.affiliation: c Department of Pharmacy , Hunan University of Traditional Chinese Medicine , Changsha , China , and.
authors.forename: Bohou
authors.initials: B
authors.lastname: Xia
authors.affiliation: d Central Laboratory , Hangzhou First People's Hospital , Hangzhou , China.
authors.forename: Guangchao
authors.initials: G
authors.lastname: Zhuo
mesh_terms: D001483:Base Sequence; D002681:China; D017124:Conserved Sequence; D004272:DNA, Mitochondrial / Q000737:chemistry*; D006801:Humans; D009154:Mutation; D009690:Nucleic Acid Conformation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D012363:RNA, Transfer, Thr / Q000737:chemistry* / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial; D012363:RNA, Transfer, Thr
keywords: Association study; LHON; mt-tRNAThr mutation