Article
A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNALeu(UUR).
The Journal of biological chemistry - 25 Aug 2017
Zhou Mi, Wang Meng, Xue Ling, Lin Zhi, He Qiufen, Shi Wenwen, Chen Yaru, Jin Xiaofen, Li Haiying, Jiang Pingping, Guan Min-Xin
Abstract excerpt
Several mitochondrial tRNA mutations have been associated with hypertension, but their pathophysiology remains poorly understood. In this report, we identified a novel homoplasmic 3253T→C mutation in the mitochondrial tRNALeu(UUR) gene in a Han Chinese family with maternally inherited hypertension. The m.3253T→C mutation affected a highly conserved uridine at position 22 at the D-stem of tRNALeu(UUR), introducing...
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