Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNA^Hismutation

The deafness-associated m.12201T>C mutation affects the A5-U68 base-pairing within the acceptor stem of mitochondrial tRNA His . The primary defect in this mutation is an alteration in tRNA His aminoacylation. Here, we further investigate the molecular mechanism of the deafness-associated tRNA His 12201T>C mutation and test whether the overexpression of the human mitochondrial histidyl-tRNA synthetase gene ( HARS2 ) in cytoplasmic hybrid...