5-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrial (MTO1)

5-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrial (MTO1), is a mitochondrial matrix enzyme required for the post-transcriptional modification of mitochondrial transfer RNAs, specifically the taurine-containing modification at the wobble position (U34) of the anticodon. This modification is crucial for efficient and accurate translation of mitochondrial-encoded proteins, which form critical subunits of the oxidative phosphorylation complexes. Mutations in MTO1 impair mitochondrial tRNA modification, leading to respiratory chain deficiencies, reduced cellular respiration, and clinical syndromes including hypertrophic cardiomyopathy and combined oxidative phosphorylation deficiency. MTO1 functions in concert with GTPBP3 (for GTP hydrolysis) and TRMU (for thiouridine formation) as part of a protein complex dedicated to tRNA modification. Although riboflavin supplementation theoretically supports FAD-containing enzymes like MTO1, it does not correct deficiencies due to severe mutations

Other names

MTO1Mitochondrial tRNA translation optimization 15-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrialProtein MTO1 homolog, mitochondrialCGI-02COXPD10Mitochondrial translation optimization 1 homologMitochondrial translation optimization 1 homolog (yeast: S. cerevisiae)Homolog of yeast Mto1Mitochondrial MTO1-3

Hypothetical: enhancement/correction of mitochondrial tRNA modification and translation; for riboflavin, facilitation of FAD-dependent enzymatic activity (found ineffective in studied mutation models)