We have discovered recurrent, somatic mutations in mitochondrial ribosomal RNA genes across all tumor types assessed. In contrast with the established idea that the majority of mitochondrial DNA molecules must be mutated to cause an effect, a low allelic dosage of these mutations disrupted mitochondrial protein translation, altering cancer metabolism and transcription.
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This is a summary of: Boscenco, S. et al. Functionally dominant hotspot mutations of mitochondrial ribosomal RNA genes in cancer. Nat. Genet. https://doi.org/10.1038/s41588-025-02374-0 (2025).
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Functional dominance in the central dogma of tumor mitochondrial genetics. Nat Genet 57, 2630–2631 (2025). https://doi.org/10.1038/s41588-025-02375-z
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DOI: https://doi.org/10.1038/s41588-025-02375-z
