Trial to search for mitochondrial DNA mutation associated with cancer detected by massively parallel sequencing

Abstract Impairment of mitochondrial function has long been suspected to contribute to the generation and progression of cancer. We performed DNA analysis of blood and cancer-affected organs in patients with cancer and situs inversus, which is considered to be a pre-cancerous condition. The total mtDNA genome of patients was analyzed and compared with data from healthy Japanese people. Long-range PCR was performed with Nextera preparation spanning the entire human mitochondrial genome (16,569 bp). Library sequencing on MiSeq (Illumina) was followed by data analysis with the mtDNA variant analyzer. We found that common mtDNA sequences (11719A, 12705 T, 15043A, 15301A,16129A) in cases of cancer of the digestive system (stomach, pancreas, and colon) were unique and specific, being rarely found in the normal population. Additionally, the mtDNA from cancer and the situs inversus cases was found to share the same mutations at some sites (11719A, 12705 T, 15043A, 15301A). Surprisingly, the findings suggest that we can diagnose or predict cancer by surveying mitochondrial mutations of the blood in Japanese.