Figure 5

Mitochondrial morphology in patient-derived fibroblasts. (A) Relative expression of PTPMT1 mRNA in primary fibroblasts analysed by quantitative PCR. No decrease was observed in Subject S1 (S1), whereas Subject S2 (S2) showed a severe loss of PTPMT1 mRNA. Error bars represent standard error of the mean; n = 5, where each data-point represents an independent biological sample. (B) Western blot detecting the PTPMT1 protein expression in primary fibroblasts from three healthy controls (CTRs), Subjects S1 and S2. An asterisk indicates a non-specific signal. β-Actin was used as a loading control. (C) Representative confocal images of mitochondrial morphology from three healthy CTRs, Subjects S1 and S2. Mitochondria were labelled with an anti-TOMM20 antibody. Scale bar = 10 μm. (D) Quantification of mitochondrial morphology related to C. (E and F) Quantification of mitochondrial length (E) and area (F), per region of interest (ROI) (225 µm²) from D. Data are expressed as mean ± standard error of the mean (SEM) (A) or standard deviation (D–F); n = 3 independent experiments. D: Two-way ANOVA, Tukey’s multiple comparison test; E and F: unpaired Mann–Whitney U-test (two-tailed). *P < 0.05, **P < 0.01, ***P < 0.001.