MUTATIONAL ANALYSIS OF MITOCHONDRIAL tRNA GENES
IN PATIENTS WITH LUNG CANCER
He ZF, Zheng LC, Xie DY, Yu SS, Zhao J
*Corresponding Author: Dr. Jun Zhao, First Affiliated Hospital, Soochow University, Shizi Road, 215006, Suzhou, People’s
Republic of China. Tel./Fax: +86-0512-65223637. E-mail: zhaojsz001@163.com
page: 45
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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.
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