Mitochondrial tRNA modification abnormalities are a recently recognized pathologic mechanism leading to defects in oxidative phosphorylation. Genes involved in these modifications include GTPBP3, and MTO1.

Tischner et al (Hum. Mol. Genet. (2015) 24 (8):2247-2266.doi: 10.1093/hmg/ddu743) recently described experiments with a mouse model for MTO1 deficiency, in which implementation of a ketogenic diet was found to subvert the oxidative phosphorylation defect, with effects on mitochondrial and cellular secondary stress responses. 

It is not clear if this intervention has a role in other disorders of mitochondrial tRNA modification, but this is an area worth further exploration, as there is little other specific therapy for affected patients.

Hilary Vernon, MD PhD