title: Mitochondrial transfer RNA variants and primary congenital glaucoma.
abstract: Variants in mitochondrial DNA (mtDNA) are the most important causes for vision loss, the mt-tRNA variants being the largest group among them. In this study, we report the molecular characterization of 15 mt-tRNA variants with primary congenital glaucoma (PCG). Based on phylogenetic approach, we found that only half of them were definitely pathogenic with PCG, other mutations were single nucleotide polymorphisms (SNP) in human population. Thus, our study provided novel insight into the pathogenesis of PCG.
authors.affiliation: a Department of Ophthalmology , Xiangya NO 2 Hospital of Central South University , Changsha , P.R. China .|b Department of Ophthalmology , Ningbo Eye Hospital , Zhejiang , P.R. China , and.
authors.forename: Quan-Yong
authors.initials: QY
authors.lastname: Yi
authors.affiliation: c The First Affiliated Hospital of Soochow University , Jiangsu , P.R. China.
authors.forename: Gang
authors.initials: G
authors.lastname: Deng
authors.affiliation: b Department of Ophthalmology , Ningbo Eye Hospital , Zhejiang , P.R. China , and.
authors.forename: Hong-Jian
authors.initials: HJ
authors.lastname: Zhou
authors.affiliation: b Department of Ophthalmology , Ningbo Eye Hospital , Zhejiang , P.R. China , and.
authors.forename: Guo-Hai
authors.initials: GH
authors.lastname: Wu
authors.affiliation: a Department of Ophthalmology , Xiangya NO 2 Hospital of Central South University , Changsha , P.R. China .
authors.forename: Luosheng
authors.initials: L
authors.lastname: Tang
mesh_terms: D000483:Alleles; D050259:Genes, Mitochondrial; D056726:Genetic Association Studies; D014644:Genetic Variation; D005901:Glaucoma / Q000151:congenital*; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012313:RNA; D000077278:RNA, Mitochondrial; D012343:RNA, Transfer / Q000235:genetics*
chemical_list: D000077278:RNA, Mitochondrial; D012313:RNA; D012343:RNA, Transfer
keywords: Association study; mt-tRNA mutations; primary congenital glaucoma