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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.

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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.

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Hilary Vernon, MD PhD