Luna-Sanchez et al (EMBO Molecular Medicine, November 2016, pii: e201606345. doi: 10.15252/emmm.201606345) recently published an article in which they described downstream effects of CoEnzyme Q10 deficiency in both a fibroblast model and two mouse models of primary CoQ10 deficiency. This group uncovered alterations in thiol metabolism, and subsequent changes in the biosynthesis glutamate, serotonin and catecholamine metabolism.

Effects on sulfur metabolic pathways are increasingly implicated in models of mitochondrial disease, and represent an important direction for both research and potential therapeutic intervention.

Hilary Vernon, MD PhD