title: The role of mitochondrial tRNA mutations in lung cancer.
abstract: Alternations in mitochondrial genome resulting in mitochondrial dysfunction have long been hypothesized to be involved in tumorigenesis. Mitochondrial tRNA (mt-tRNA) is known for its high frequencies of polymorphisms and mutations, however, the roles of these mutations and polymorphisms in lung cancer are among heated debates. To evaluate the possible roles of reported mt-tRNA mutations in lung cancer, we examine recent published paper concerning three mt-tRNA mutations with lung cancer: A7460G in tRNA(Ser (UCN)) gene, G5563A in tRNA(Trp) gene and A12172G in tRNA(His) gene. We perform the phylogenetic approach to investigate the deleterious roles of these mutations in lung cancer, moreover, we use bioinformatics tool to predict the secondary structure of mt-tRNAs with and without these mutations. In addition, through the application of pathogenicity scoring system, we find that only the A12172G mutation is regarded as a pathogenic mutation, whereas other mutations may act as neutral polymorphisms in human population. Thus, our study provides the novel insight into the molecular pathogenesis of mt-tRNA mutations in lung cancer.
authors.affiliation: Department of Cardiothoracic Surgery, Zhou Shan Hospital Zhou Shan, Zhejiang, China.
authors.forename: Lie
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Cardiothoracic Surgery, Zhou Shan Hospital Zhou Shan, Zhejiang, China.
authors.forename: Zhi-Jun
authors.initials: ZJ
authors.lastname: Chen
authors.affiliation: Department of Cardiothoracic Surgery, Zhou Shan Hospital Zhou Shan, Zhejiang, China.
authors.forename: Yong-Kui
authors.initials: YK
authors.lastname: Zhang
authors.affiliation: Department of Cardiothoracic Surgery, Zhou Shan Hospital Zhou Shan, Zhejiang, China.
authors.forename: Han-Bo
authors.initials: HB
authors.lastname: Le
keywords: lung cancer; mt-tRNA mutations; pathogenicity