<abstract xmlns="http://www.w3.org/1999/xhtml">Mutations in mitochondrial tRNA (<italic>mt-tRNA</italic>) 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 22 <italic>mt-tRNA</italic> genes from 200 lung cancer blood samples, as well as 100 healthy subjects. As a result, five mutations were identified including the <italic>tRNAAla T5655C, tRNAArg T10454C, tRNALeu(CUN) A12330G, tRNASer(UCN) T7505C</italic> and <italic>tRNAThr G15927A</italic>. 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 that <italic>tRNA</italic> genes 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.</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 22 mt-tRNA genes from 200 lung cancer blood samples, as well as 100 healthy subjects. As a result, five mutations were identified including the tRNAAla T5655C, tRNAArg T10454C, tRNALeu(CUN) A12330G, tRNASer(UCN) T7505C and tRNAThr G15927A. 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 that tRNA genes 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.

Mutational analysis of mitochondrial tRNA genes in patients with lung cancer

Balkan Journal of Medical Genetics

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

{"article-title":"Mutational analysis of mitochondrial tRNA genes in patients with lung cancer"}

Mutations in mitochondrial tRNA (mt-tRNA) genes have been found to be associated with various diseases including lung cancer. To understand the possible...

Mutational analysis of mitochondrial tRNA genes in patients with lung cancer

Article Category: Original Article

Published Online: Dec 31, 2016

Page range: 45 - 50

DOI: https://doi.org/10.1515/bjmg-2016-0035

Keywords
Lung cancer, Mitochondrial tRNA (mt-tRNA), Mutations, Pathogenic

© 2016 He ZF, Zheng LC, Xie DY, Yu SS, Zhao J

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Mutational analysis of mitochondrial tRNA genes in patients with lung cancer

Article Category: Original Article

Published Online: Dec 31, 2016

Page range: 45 - 50

DOI: https://doi.org/10.1515/bjmg-2016-0035

KeywordsLung cancer, Mitochondrial tRNA (mt-tRNA), Mutations, Pathogenic

© 2016 He ZF, Zheng LC, Xie DY, Yu SS, Zhao J

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Keywords
Lung cancer, Mitochondrial tRNA (mt-tRNA), Mutations, Pathogenic