Skip to main content
Fig. 2 | BMC Neurology

Fig. 2

From: Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia

Fig. 2

Patient skin fibroblasts display abnormal mitochondrial morphology and a reduction of mitochondrial complexes. A Representative images of mitochondrial network in 2 healthy subjects and patient fibroblasts stained with Green mitotracker®. 3D-Images projection were obtained using a Zeiss Vivatome microscope (objectives × 63, scale bar = 10 μm). B Quantification of mitochondrial morphology by calculating number of circular mitochondria (MT) per cell [8]. C Summed branch length were measured with Mitochondrial Network Analysis (MiNA) toolset ImageJ plug-ins [15]. Data are represented as mean ± SEM from 5 independent experiments with 80 to 100 cells. * p < 0.05, ** p < 0.01, **** p < 0.0001. (D-E) Evaluation of mitochondrial respiratory complex proteins quantity in patient fibroblasts. Western blot analyses of mitochondrial OXPHOS complex subunits in patient and control (ctrl1) fibroblasts using β-actin (Sigma) and VDAC1 (Porin, Abcam) as loading controls. Total OXPHOS Antibody Cocktail® (Abcam) contains: ATP synthase 5A (Complex V, 55 kDa), COX II (complex IV, 22 kDa), UQCRC2 (complex III, 48 kDa), SDHB (complex II, 30 kDa), and NDUFB8 (complex I, 18 kDa). Data are expressed as mean ± SEM from 8 independent experiments. Statistical analyses were performed with GraphPad Prism 7 using Mann Whitney test or 2 Way ANOVA multiple comparisons tests (GraphPad Software, Inc.)

Back to article page