Article
Mitochondrial haplotype mutation alleviates respiratory defect of MELAS by restoring taurine modification in tRNA with 3243A > G mutation.
Nucleic acids research - 11 Aug 2023
Ueda Saori, Yagi Mikako, Tomoda Ena, Matsumoto Shinya, Ueyanagi Yasushi, Do Yura, Setoyama Daiki, Matsushima Yuichi, Nagao Asuteka, Suzuki Tsutomu, Ide Tomomi, Mori Yusuke, Oyama Noriko, Kang Dongchon, Uchiumi Takeshi
Abstract excerpt
The 3243A > G in mtDNA is a representative mutation in mitochondrial diseases. Mitochondrial protein synthesis is impaired due to decoding disorder caused by severe reduction of 5-taurinomethyluridine (τm5U) modification of the mutant mt-tRNALeu(UUR) bearing 3243A > G mutation. The 3243A > G heteroplasmy in peripheral blood reportedly decreases exponentially with age. Here, we found three cases with mild...
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