Fig. 3

Patient fibroblasts show enhanced L-OPA1 processing via OMA1 hyper-activation. WB analysis and relative quantification of (a) AFG3L2 and (b) OPA1 total amount, YME1L1, L-OPA1, S-OPA1, OMA1 in human primary fibroblasts. G337E_1 is the proband and G337E_2 is patient II-2 of the pedigree. Bars represent means ± SEM of three independent experiments. Student’s t test: * p < 0.05; ** p < 0.01; *** p < 0.001. (c) Representative pictures of mitochondrial morphology in human primary fibroblasts infected with mtDsRed2 and visualized by live imaging microscopy. The graph shows the morphometric analysis of mitochondrial morphology. At least 100 randomly selected cells were analyzed in each experiment. Chi-square analysis (two degrees of freedom): *** p < 0.001