Breaking a single hydrogen bond in the mitochondrial tRNA^Phe -PheRS complex leads to phenotypic pleiotropy of human disease.

ABSTRACT: Various pathogenic variants in both mitochondrial tRNA^Phe and Phenylalanyl-tRNA synthetase mitochondrial protein coding gene (FARS2) gene encoding for the human mitochondrial PheRS have been identified and associated with neurological and/or muscle-related pathologies. An important Guanine-34 (G34)A anticodon mutation associated with myoclonic epilepsy with ragged red fibers (MERRF) syndrome has been reported in hmit-tRNA^Phe . The majority of G34 contacts in available aaRSs-tRNAs complexes specifically use that base as an important tRNA identity element. The network of intermolecular interactions providing its specific recognition also largely conserved. However, their conservation depends also on the invariance of the residues in the anticodon binding domain (ABD) of

SUBMITTER: Peretz M 

PROVIDER: S-EPMC7540514 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature