Comparison of the frequency of mtDNA mutation in primary and metastatic lesions of human malignant tumors

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We showed that ROS-generating pathogenic mutations in NADH dehydrogenase subunit 6(ND6) gene of mitochondrial DNA(mtDNA), which is a subunit of complex I of the electron transport chain, can regulate tumor cell metastasis in mouse models. In this study, we compared the status of mutations and nonsynonymous single nucleotide polymorphisms(SNPs) of the genes encoding complex I subunits(ND1, ND2, ND3, ND4L and ND6) between primary and metastatic lesions of human lung and colon carcinomas. The combined frequency of appearance of nonsynonymous SNPs and mutations related to mtDNA base substitution disease such as LHON and novel mutations of Grantham value> 50 in the genes encoding complex I was considerably higher in metastatic lesions than in primary lesions. It may be possible that such mtDNA SNPs and mutations contribute to metastasis in human cancers.