Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation
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DOI: 10.1073/pnas.2212417119
Abstract: Significance Here we demonstrate a previously unreported class of mitochondrial disease originating from the incompatibility of common mtDNA variants. Until now, clinical evaluation of the mitochondrial DNA only assessed the frequency of individual variants, and… read more here.
Keywords: mitochondrial disease; common mtdna; mtdna variants; mtdna ... See more keywords
Incompatibilities between common mtDNA variants in human disease
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2217452119
Abstract: Mitochondria are the powerhouses of cells and play important roles in development and health. Besides producing adenosine triphosphate (ATP), mitochondria are also responsible for a number of diverse cellular activities, including reactive oxygen species (ROS)… read more here.
Keywords: human disease; common mtdna; variants human; mitochondrial diseases ... See more keywords