The Journal of Cell Biology · 2015 · 223 citations · 46 references
Life SciencesBiochemistryCell BiologyMetabolismMitochondrial BiologyNeurodegenerationMitochondrial DysfunctionMitochondrial FissionMitochondrial FunctionMitochondrial MetabolismMitochondrial PhysiologyOxidative PhosphorylationCoenzyme Q10 DeficiencyMfn2 MutationsMitochondrial Atp ProductionMitofusin 2Oxidative Phosphorylation DeficiencyOxidative Phosphorylation DysfunctionRespiratory Chain DeficiencyRespiratory Chain Dysfunction
Mitochondria form a dynamic network within the cell as a result of balanced fusion and fission. Despite the established role of mitofusins (MFN1 and MFN2) in mitochondrial fusion, only MFN2 has been associated with metabolic and neurodegenerative diseases, which suggests that MFN2 is needed to maintain mitochondrial energy metabolism. The molecular basis for the mitochondrial dysfunction encountered in the absence of MFN2 is not understood. Here we show that loss of MFN2 leads to impaired mitochondrial respiration and reduced ATP production, and that this defective oxidative phosphorylation process unexpectedly originates from a depletion of the mitochondrial coenzyme Q pool. Our study unravels an unexpected and novel role for MFN2 in maintenance of the terpenoid biosynthesis pathway, which is necessary for mitochondrial coenzyme Q biosynthesis. The reduced respiratory chain function in cells lacking MFN2 can be partially rescued by coenzyme Q10 supplementation, which suggests a possible therapeutic strategy for patients with diseases caused by mutations in the Mfn2 gene.
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