A novel acceptor stem variant in mitochondrial tRNA^Tyr impairs mitochondrial translation and is associated with a severe phenotype.

ABSTRACT: Genetic defects in mitochondrial DNA encoded tRNA genes impair mitochondrial translation with resultant defects in the mitochondrial respiratory chain and oxidative phosphorylation system. The phenotypic spectrum of disease seen in mitochondrial tRNA defects is variable and proving pathogenicity of new variants is challenging. Only three pathogenic variants have been described previously in the mitochondrial tRNA^Tyr gene MT-TY, with the reported phenotypes consisting largely of adult onset myopathy and ptosis. We report a patient with a novel MT-TY acceptor stem variant m.5889A>G at high heteroplasmy in muscle, low in blood, and absent in the mother's blood. The phenotype consisted of a childhood-onset severe multi-system disorder characterized by a neurodegenerative course incl

SUBMITTER: Kripps KA 

PROVIDER: S-EPMC7749820 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature