MTO1 encodes mitochondrial tRNA translation optimization 1 (717 aa). Component of the GTPBP3-MTO1 complex that catalyzes the 5-taurinomethyluridine (taum(5)U) modification at the 34th wobble position (U34) of mitochondrial tRNAs (mt-tRNAs), which plays a role in mt-tRNA decoding and mitochondrial translation. Highest expression in Nerve Tibial (8.2 TPM) and Cervix Ectocervix (7.8 TPM).

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is associated with mutations in the MTO1 gene on chromosome 6.

MTO1 is classified as a druggable target with score 0.0.

Genetic testing for MTO1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 13 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency.

5 publications have been identified in PubMed for mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency. Research spans Review / Meta-Analysis (80%) and Basic Science / Preclinical (20%).

Recent Publications

• Chujo T (2025). [PMID: 39719325](https://pubmed.ncbi.nlm.nih.gov/39719325/). *RNA*. [Review / Meta-Analysis]

• Morishima T (2025). [PMID: 39983002](https://pubmed.ncbi.nlm.nih.gov/39983002/). *Sci Adv*. [Basic Science / Preclinical]

• Adorisio R (2025). [PMID: 40678571](https://pubmed.ncbi.nlm.nih.gov/40678571/). *Front Cardiovasc Med*. [Review / Meta-Analysis]

• Čunátová K (2024). [PMID: 39053894](https://pubmed.ncbi.nlm.nih.gov/39053894/). *J Inherit Metab Dis*. [Review / Meta-Analysis]

• Antolínez-Fernández Á (2024). [PMID: 38855161](https://pubmed.ncbi.nlm.nih.gov/38855161/). *Front Cell Dev Biol*. [Review / Meta-Analysis]