Fig. 3

Characterization of fibroblasts from proband 1. a: OPA1 protein amount in patient’s (P1) and control (CT1, CT2 and CT3) fibroblasts, obtained using an anti-OPA1 antibody. Anti-TUBB and anti-HSP60 antibodies were used as loading controls. b: Representative images of mitochondrial morphology (obtained with Mitotracker red) in fibroblasts from proband 1 (P1) and a control (CT), grown either in glucose or galactose medium. Scale bar: 20 μm. c Quantification of mtDNA amount in fibroblasts (fb) and skeletal muscle (ms) from proband 1 (P1) and controls. (Ct). The bars represent the amount of mtDNA normalized to nuclear DNA (nDNA), compared to the mean value of controls (=1). Two different probes for mtDNA were used. Data are represented as mean + SD