Detection of Mitochondrial Mutations in Cancer by Next Generation Sequencing

Fei Ye, David C, Samuels an

Abstract

Mitochondria play a central role in the regulation of cellular function, metabolism, and cell death in many types of cell including cancer. Little attention has been paid to the potential mutations that can affect mitochondrial function in cancer, other than specific mutations in genes that are encoded in the nuclear DNA and so once mutated, all mitochondria in a cell will be affected. However, both somatic and germline mutations in mitochondrial genes are common and have been suggested to contribute to the development of cancer. Recent advances in high-throughput technologies have allowed for the rapid and accurate detection of mitochondrial DNA (mtDNA) mutations, polymorphisms, or copy number variations in a variety of tissues and bodily fluids, and can be used as a tool for early detection and treatment of cancer. In addition to deep-sequencing specifically targeted at mtDNA, mtDNA sequences can also be extracted from exome (or whole genome) sequencing data.