A role for BCL2L13 and autophagy in germline purifying selection of mtDNA

• Published in: PLoS genetics Vol. 19; no. 1; p. e1010573
• Main Authors: Kremer, Laura S., Bozhilova, Lyuba V., Rubalcava-Gracia, Diana, Filograna, Roberta, Upadhyay, Mamta, Koolmeister, Camilla, Chinnery, Patrick F., Larsson, Nils-Göran
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 06.01.2023; Public Library of Science (PLoS)
• Subjects: Analysis; Animal models; Animals; Autophagy; Autophagy (Cytology); Autophagy - genetics; Biology and Life Sciences; Cell death; DNA, Mitochondrial - genetics; DNA, Mitochondrial - metabolism; Engineering and Technology; Female; Females; Gene expression; Gene mutations; Genetic aspects; Genetic engineering; Genetic research; Germ Cells - metabolism; Health aspects; Infectious Disease Transmission, Vertical; Kinases; Mammals - genetics; Methods; Mice; Mitochondria; Mitochondria - genetics; Mitochondrial diseases; Mitochondrial DNA; Molecular modelling; Mothers; Mutation; Parkin protein; Prevention; Proteins; Proto-Oncogene Proteins c-bcl-2 - genetics; Proto-Oncogene Proteins c-bcl-2 - metabolism; Recombination; Research and Analysis Methods; Risk factors; Statistical analysis; Stochasticity; Sweden

Mammalian mitochondrial DNA (mtDNA) is inherited uniparentally through the female germline without undergoing recombination. This poses a major problem as deleterious mtDNA mutations must be eliminated to avoid a mutational meltdown over generations. At least two mechanisms that can decrease the mut...