TY - JOUR
T1 - Relationship between mitochondrial DNA mutations and clinical characteristics in human lung cancer
AU - Jin, Xiongjie
AU - Zhang, Jianjun
AU - Gao, Yanning
AU - Ding, Keyue
AU - Wang, Naishu
AU - Zhou, David
AU - Jen, Jin
AU - Cheng, Shujun
N1 - Funding Information:
This work was financially supported by both the State Key Programme of Basic Research (Project No. G1998051207) and the National Key Technologies R & D Programme (Project No. 2002BA711A06) from the Ministry of Science and Technology of China to Dr. Yanning Gao.
PY - 2007/9
Y1 - 2007/9
N2 - Mitochondrial DNA (mtDNA) is known for its high frequencies of polymorphisms and mutations, some of which are related to various diseases, including cancers. However, roles of mutations and polymorphisms in some diseases are among heated debate, especially for cancer. To investigate the possible role of mtDNA mutations in lung cancer, we sequenced complete mtDNA of lung cancer tissues, corresponding normal (i.e., non-cancerous) lung tissues, and peripheral blood samples from 55 lung cancer patients and examined the relationship between mtDNA mutations or polymorphisms and clinical parameters. We identified 56 mutations in 33 (60%) of the 55 patients, including 48 point mutations, four single-nucleotide insertions, and four single-nucleotide deletions. Nineteen of these mutations resulted in amino acid substitution. These missense mtDNA mutations were distributed in 9 of 13 mitochondrial DNA coding genes. Three hundred eighty eight polymorphisms were identified among the 55 patients. Seventy-three polymorphisms resulted in amino acid substitution. There was no association of incidence of specific mtDNA mutation or polymorphism with patients' gender, age at diagnosis, smoking history, tumor type or tumor stage (P > 0.05). This study revealed a variety of mtDNA mutations and mtDNA polymorphisms in human lung cancer, some of which might be involved in human lung carcinogenesis.
AB - Mitochondrial DNA (mtDNA) is known for its high frequencies of polymorphisms and mutations, some of which are related to various diseases, including cancers. However, roles of mutations and polymorphisms in some diseases are among heated debate, especially for cancer. To investigate the possible role of mtDNA mutations in lung cancer, we sequenced complete mtDNA of lung cancer tissues, corresponding normal (i.e., non-cancerous) lung tissues, and peripheral blood samples from 55 lung cancer patients and examined the relationship between mtDNA mutations or polymorphisms and clinical parameters. We identified 56 mutations in 33 (60%) of the 55 patients, including 48 point mutations, four single-nucleotide insertions, and four single-nucleotide deletions. Nineteen of these mutations resulted in amino acid substitution. These missense mtDNA mutations were distributed in 9 of 13 mitochondrial DNA coding genes. Three hundred eighty eight polymorphisms were identified among the 55 patients. Seventy-three polymorphisms resulted in amino acid substitution. There was no association of incidence of specific mtDNA mutation or polymorphism with patients' gender, age at diagnosis, smoking history, tumor type or tumor stage (P > 0.05). This study revealed a variety of mtDNA mutations and mtDNA polymorphisms in human lung cancer, some of which might be involved in human lung carcinogenesis.
KW - Lung cancer
KW - Mitochondrial DNA
KW - Mutation
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U2 - 10.1016/j.mito.2007.06.003
DO - 10.1016/j.mito.2007.06.003
M3 - Article
C2 - 17707697
AN - SCOPUS:34548127859
SN - 1567-7249
VL - 7
SP - 347
EP - 353
JO - Mitochondrion
JF - Mitochondrion
IS - 5
ER -