Fig. 5

PBMC oxygen consumption rates. A Representative profile of oxygen consumption rate (OCR) of PBMCs (4 × 105 cells/well) isolated from a blood sample of the patient. OCR was measured in a Seahorse XFe24 extracellular flux analyzer before and after the sequential addition of oligomycin (Oligo, final concentration 2.5 μM), FCCP (final concentrations 1 and 3 μM) and antimycin A plus rotenone (AA/Rot, final concentrations 2.5 μM/2.5 μM). All data were normalized to cell number. B Respiratory parameters for the patient were determined from the graph described above. Control values were obtained from male pediatric subjects with 5, 7 and 10 years, the mean values of these subjects were published previously [33]. C Respiratory parameters were normalized considering the number of mtDNA copies of the patient (299 mtDNA copies/cell), and control subjects (416, 322 and 200 mtDNA copies/cell, for the 5, 7 and 10 years old male controls, respectively). Values are shown for the patient (SPATA5, green), male control subjects of 5 (Black), 7 (dark purple) and 10 years old (light purple). Results are the mean ± SD. One-way ANOVA and Dunnett’s post hoc tests were performed (n = 5), *p < 0.05, **p < 0.001, ***p < 0.0001