Article
Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations.
JCI insight - 8 Sept 2023
Zhang Jingdian, Koolmeister Camilla, Han Jinming, Filograna Roberta, Hanke Leo, Àdori Monika, Sheward Daniel J, Teifel Sina, Gopalakrishna Shreekara, Shao Qiuya, Liu Yong, Zhu Keying, Harris Robert A, McInerney Gerald, Murrell Ben, Aoun Mike, Bäckdahl Liselotte, Holmdahl Rikard, Pekalski Marcin, Wedell Anna, Engvall Martin, Wredenberg Anna, Karlsson Hedestam Gunilla B, Castro Dopico Xaquin, Rorbach Joanna
Abstract excerpt
Pathogenic mutations in mitochondrial (mt) tRNA genes that compromise oxidative phosphorylation (OXPHOS) exhibit heteroplasmy and cause a range of multisyndromic conditions. Although mitochondrial disease patients are known to suffer from abnormal immune responses, how heteroplasmic mtDNA mutations affect the immune system at the molecular level is largely unknown. Here, in mice carrying pathogenic C5024T in...
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