title: Mutational analysis of mitochondrial tRNA genes in patients with lung cancer.
abstract: Mutations in mitochondrial tRNA (mt-tRNA) genes have been found to be associated with various diseases including lung cancer. To understand the possible relationship between mtRNA mutations and lung cancer, we sequenced the 22mt-tRNAgenes from 200 lung cancer blood samples, as well as 100 healthy subjects. As a result, five mutations were identified including thetRNAAlaT5655C, tRNAArgT10454C, tRNALeu(CUN)A12330G, tRNASer(UCN)T7505CandtRNAThrG15927A. These mutations were absent in the healthy subjects. These mutations and polymorphisms were localized at the highly conserved nucleotides of the corresponding mitochondrial tRNAs, which are critical for the tRNA steady state level and may result in failure in the tRNA metabolism. Moreover, through the application of the pathogenicity scoring system, we found that only the T10454C mutation should be classified as a "neutral polymorphism," while the other mutations were regarded as "definitely pathogenic." Taken together, our data indicate thattRNAgenes are the hot-spots for pathogenic mutations associated with lung cancer. Our findings may provide valuable information for pathophysiology, management and genetic counseling of lung cancer.
authors.affiliation: First Affiliated Hospital, Soochow University, Suzhou, People's Republic of, China; Department of Cardio-Thoracic Surgery, First Affiliated Hospital, Wenzhou Medical University, Wenzhou, People's Republic of China.
authors.forename: Z F
authors.initials: ZF
authors.lastname: He
authors.affiliation: First Affiliated Hospital, Soochow University, Suzhou, People's Republic of, China.
authors.forename: L C
authors.initials: LC
authors.lastname: Zheng
authors.affiliation: Department of Cardio-Thoracic Surgery, First Affiliated Hospital, Wenzhou Medical University, Wenzhou, People's Republic of China.
authors.forename: D Y
authors.initials: DY
authors.lastname: Xie
authors.affiliation: College of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, People's Republic of China.
authors.forename: S S
authors.initials: SS
authors.lastname: Yu
authors.affiliation: First Affiliated Hospital, Soochow University, Suzhou, People's Republic of, China.
authors.forename: J
authors.initials: J
authors.lastname: Zhao
keywords: Lung cancer; Mitochondrial tRNA (mt-tRNA); Mutations; Pathogenic