Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency

► The mitochondrial proteome in a patient with complete absence of ETF-QO was characterized. ► A total of 287 proteins were positively identified, by 2-DE-MS/MS, in both patient and controls. ► The overexpression of chaperones, antioxidant enzymes and apoptotic proteins was observed. ► These results reflect the mitochondrial response to the complete absence of ETF-QO.