A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNA^Leu(UUR).

ABSTRACT: 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 tRNA^Leu(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 tRNA^Leu(UUR), introducing a G-C base pairing (G13-C22) at the D-stem and a tertiary base pairing (C22-G46) between the D-stem and the variable loop. We therefore hypothesized that the m.3253T→C mutation altered both the structure and function of tRNA^Leu(UUR) Using cytoplasmic hybrid (cybrid) cell lines derived from this Chinese family, we demonstrated that the m.3253T→C mut

SUBMITTER: Zhou M 

PROVIDER: S-EPMC5572913 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature