Functional Role of Mitochondrial DNA in Cancer Progression

Mitochondrial DNA (mtDNA) has been identified as a significant genetic biomarker in disease, cancer and evolution. Mitochondria function as modulators for regulating cellular metabolism. In the clinic, mtDNA variations (mutations/single nucleotide polymorphisms) and dysregulation of mitochondria-encoded genes are associated with survival outcomes among cancer patients. On the other hand, nuclear-encoded genes have been found to regulate mitochondria-encoded gene expression, in turn regulating mitochondrial homeostasis. These observations suggest that the crosstalk between the nuclear genome and mitochondrial genome is important for cellular function. Therefore, this review summarizes the significant mechanisms and functional roles of mtDNA variations (DNA level) and mtDNA-encoded genes (RNA and protein levels) in cancers and discusses new mechanisms of crosstalk between mtDNA and the nuclear genome.

Automated summary

Mitochondrial DNA plays a significant role as a genetic biomarker in disease, cancer, and evolution. It functions as a modulator for regulating cellular metabolism and its variations and dysregulation are associated with cancer patient survival outcomes. Additionally, nuclear-encoded genes regulate mitochondrial homeostasis by controlling the expression of mitochondria-encoded genes. The crosstalk between nuclear and mitochondrial genomes is crucial for cellular function.