He Z F, Zheng L C, Xie D Y, Yu S S, Zhao J
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.
First Affiliated Hospital, Soochow University, Suzhou, People's Republic of, China.
Balkan J Med Genet. 2017 Mar 8;19(2):45-50. doi: 10.1515/bjmg-2016-0035. eCollection 2016 Dec 1.
Mutations in mitochondrial 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 genes from 200 lung cancer blood samples, as well as 100 healthy subjects. As a result, five mutations were identified including the and . 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 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.
线粒体tRNA（）基因的突变已被发现与包括肺癌在内的多种疾病相关。为了解线粒体RNA突变与肺癌之间的可能关系，我们对200份肺癌血液样本以及100名健康受试者的22个基因进行了测序。结果，鉴定出五个突变，包括和。这些突变在健康受试者中不存在。这些突变和多态性位于相应线粒体tRNA的高度保守核苷酸处，这些核苷酸对于tRNA稳态水平至关重要，可能导致tRNA代谢失败。此外，通过应用致病性评分系统，我们发现只有T10454C突变应被归类为“中性多态性”，而其他突变被视为“肯定致病”。综上所述，我们的数据表明基因是与肺癌相关的致病突变热点。我们的发现可能为肺癌的病理生理学、管理和遗传咨询提供有价值的信息。
