Fig. 2

A Oxygen consumption rates of control (C) and patient-derived (Pt) fibroblasts measured in MEM with galactose (1 g/L) (GAL) instead of glucose, and upon the subsequent addition of (a) 6 μM oligomycin (OL), (b) 20 μM FCCP, (c) 1 μM rotenone and 1 μM antimycin (R/A). Oxygen consumption coupled to ATP production (ATP-linked), maximum respiration (Rmax) and spare capacity (Spare) were calculated for each situation. Results are expressed as fold-change over the control concentrations and are the mean ± SD of 3–5 wells from three independent experiments represented by circles in the bar graph. Control values are the means of the two control cell lines (CC2509 and GM8680). B Electron microscopy images showing defects in mitochondrial ultrastructure and cristae organization (white arrows) in patient-derived fibroblasts grown in MEM with galactose. Mitochondrial length was determined in control (C) and patient-derived (Pt) fibroblasts. C Mitochondrial enlargement is expressed as the aspect ratio (major/minor mitochondrial axis ratio). Measurements were made for at least 50 mitochondria. Statistical analysis were performed using GraphPad Prims software. Student t test (**p < 0.01; ***p < 0.001). D Western blot of Oxphos (SDS-PAGE-separated) from purified mitochondria. E Blue native gel, staining of complex I (NDUFA9), complex II (SDHA), complex IV (MTCOI) and complex V (ATP5A) in purified mitochondria CI: complex I; CII: complex II; CIII: complex III; CIV: complex IV; CV: complex V; CS: Citrate Synthase; SC: supercomplexes