Mitochondrial DNA mutations and intercellular mitochondrial transfer in cancer: mechanisms, biological effects, and clinical potential

Evidence from laboratory and animal studies provides groundwork for understanding mechanisms and potential before human studies continue.

• Level A · Stronger Clinical Evidence
• Level B · Emerging clinical evidence with positive signals
• Level C · Early human research exploring benefits
• Level D · Scientific groundwork from lab and animal studies
• Emerging · Emerging topic under active research

Abstract (original English)

Mitochondrial DNA (mtDNA) mutations are frequently detected in tumor cells and represent a distinctive aspect of cancer genomics. Common types of mtDNA alterations include single nucleotide variants, insertions and deletions, and copy number changes. These mutations often result in a range of biological effects, encompassing both in situ and ectopic mechanisms. In situ, mutant mtDNA may lead to respiratory chain dysfunction, impairing oxidative phosphorylation and shifting energy production toward glycolysis and other metabolic pathways. This metabolic reprogramming, along with altered glutamine and lipid metabolism, is frequently accompanied by reactive oxygen species accumulation, which can activate pro-tumorigenic signaling cascades and contribute to genomic instability. These changes promote cancer cell proliferation, enhance invasive and metastatic potential, and facilitate immune evasion. Moreover, through mitochondrial transfer mechanisms such as tunneling nanotubes, extracellular vesicles, cell fusion, or gap junction channels, mutant mtDNA can be transmitted to other cells, serving as an important mode of intercellular communication within tumors. This process promotes tumor progression and metastasis, regulates apoptotic pathways, facilitates immune evasion, and enhances therapeutic resistance, allowing mutant mtDNA to exert ectopic effects. Clinically, mtDNA mutation

Evidence level

Evidence from laboratory and animal studies provides groundwork for understanding mechanisms and potential before human studies continue.

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