Figure 2.

Investigation of pathogenicity of COQ7 variants. (A) Western blot using cultured fibroblasts from three healthy control (C1 and C2) and two COQ7 patients (Patient 1, proband of Family 1, and Patient 2, proband of Family 2). COQ7 protein is depleted in the patients’ fibroblasts. COQ7 band intensity was quantified and normalized by GAPDH. (B) Cell respiration in whole cells and substrate oxidation in digitonin-permeabilized cells in the presence of ADP (phosphorylating) or CCCP (non-phosphorylating); t-test (paired). (C) HPLC analysis of quinone extracts from control and patients’ fibroblasts. HPLC chromatograms detection of DMQ₁₀ and CoQ₁₀ peaks. Fibroblasts from patients show a slight reduction in the levels of CoQ₁₀ and abnormal accumulation of the precursor DMQ₁₀.