Mitochondrial Genome (mtDNA) Mutations that Generate Reactive Oxygen Species

Antioxidants (Basel). 2019 Sep 11;8(9):392. doi: 10.3390/antiox8090392.


Mitochondria are critical for the energetic demands of virtually every cellular process within nucleated eukaryotic cells. They harbour multiple copies of their own genome (mtDNA), as well as the protein-synthesing systems required for the translation of vital subunits of the oxidative phosphorylation machinery used to generate adenosine triphosphate (ATP). Molecular lesions to the mtDNA cause severe metabolic diseases and have been proposed to contribute to the progressive nature of common age-related diseases such as cancer, cardiomyopathy, diabetes, and neurodegenerative disorders. As a consequence of playing a central role in cellular energy metabolism, mitochondria produce reactive oxygen species (ROS) as a by-product of respiration. Here we review the evidence that mutations in the mtDNA exacerbate ROS production, contributing to disease.

Keywords: aging; cancer; mitochondrial DNA (mtDNA); mitochondrial disease; neurodegeneration; oxidative stress; reactive oxygen species.

Publication types

  • Review