Serious assessment of mtDNA variants is a prerequisite to confirm pathogenicity
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.08.3233
Abstract: We read with interest the article by Lu et al. about a retrospective study of 22 patients with a mitochondrial disorder (MID) of whom 12 carried a mtDNA mutation [1]. In 11 of the patients… read more here.
Keywords: mtdna; 3302a 3250t; variant; pathogenicity ... See more keywords
Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation
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.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
Mitochondrial DNA genetic variants are associated with systemic lupus erythematosus susceptibility, glucocorticoids efficacy, and prognosis.
Sign Up to like & getrecommendations! Published in 2021 at "Rheumatology"
DOI: 10.1093/rheumatology/keab806
Abstract: OBJECTIVE To investigate the associations of mitochondrial DNA (mtDNA) genetic variants with systemic lupus erythematosus (SLE) susceptibility, glucocorticoids (GCs) efficacy, and prognosis. METHODS Our study was done in two stages. First, we performed the whole… read more here.
Keywords: efficacy prognosis; susceptibility; genetic variants; efficacy ... See more keywords