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Updated: Aug 7, 2026

Analytical Determination of Mitochondrial Function of Excised Solid Tumor Homogenates
Published on: August 6, 2021
Mitochondrial DNA in human malignancy
J S Penta1, F M Johnson, J T Wachsman
1Office of Clinical Research, National Institute of Environmental Health Sciences, National Institutes of Health, P.O. Box 12233, MD A2-05, Research Triangle Park, NC 27709, USA. penta@niehs.nih.gov
Abstract:
Alterations in expression of mitochondrial DNA (mtDNA)-encoded polypeptides required for oxidative phosphorylation and cellular ATP generation may be a general characteristic of cancer cells. Mitochondrial DNA has been proposed to be involved in carcinogenesis because of high susceptibility to mutations and limited repair mechanisms in comparison to nuclear DNA. Since mtDNA lacks introns, it has been suggested that most mutations will occur in coding sequences and subsequent accumulation of mutations may lead to tumor formation. The mitochondrial genome is dependent upon the nuclear genome for transcription, translation, replication and repair, but precise mechanisms for how the two genomes interact and integrate with each other are poorly understood. In solid tumors, elevated expression of mtDNA-encoded subunits of the mitochondrial electron respiratory chain may reflect mitochondrial adaptation to perturbations in cellular energy requirements. In this paper, we review mitochondrial genomic aberrations reported in solid tumors of the breast, colon, stomach, liver, kidney, bladder, head/neck and lung as well as for hematologic diseases such as leukemia, myelodysplastic syndrome and lymphoma. We include data for elevated expression of mtDNA-encoded electron respiratory chain subunits in breast, colon and liver cancers and also the mutations reported in cancers of the colon, stomach, bladder, head/neck and lung. Finally, we examine the role of reactive oxygen species (ROS) generated by mitochondria in the process of carcinogenesis.
Insights
Cancer cells often show altered mitochondrial DNA (mtDNA) expression, impacting energy production. Mutations and expression changes in mtDNA are implicated in tumor formation and progression across various cancers.
Area of Science:
- Mitochondrial biology
- Cancer genomics
- Cellular metabolism
Background:
- Mitochondrial DNA (mtDNA) alterations are increasingly recognized in cancer.
- mtDNA's susceptibility to mutations and limited repair suggest a role in carcinogenesis.
- The interplay between nuclear and mitochondrial genomes in cancer remains poorly understood.
Purpose of the Study:
- To review mitochondrial genomic aberrations in various solid tumors and hematologic malignancies.
- To examine the expression of mtDNA-encoded subunits in cancer.
- To explore the role of mitochondrial reactive oxygen species (ROS) in carcinogenesis.
Main Methods:
- Literature review of mitochondrial genomic aberrations in solid tumors (breast, colon, stomach, liver, kidney, bladder, head/neck, lung) and hematologic diseases.
- Analysis of reported data on elevated expression of mtDNA-encoded electron respiratory chain subunits.
- Inclusion of data on mtDNA mutations in various cancers.
Main Results:
- Alterations in mtDNA-encoded polypeptides are common in cancer cells, affecting oxidative phosphorylation and ATP generation.
- Elevated expression of mtDNA-encoded electron respiratory chain subunits is observed in breast, colon, and liver cancers.
- mtDNA mutations are reported in colon, stomach, bladder, head/neck, and lung cancers.
Conclusions:
- Mitochondrial genomic aberrations, including mutations and altered expression, are prevalent in diverse cancers.
- These alterations likely contribute to cancer development and progression by affecting cellular energy metabolism.
- Mitochondria-derived reactive oxygen species (ROS) may play a significant role in the carcinogenic process.
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