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Fig. 6 | Orphanet Journal of Rare Diseases

Fig. 6

From: Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Fig. 6

Impaired mitochondrial network and localization in fibroblasts derived from Individuals A.II-3 and B.II-1. Images showing, for each individual, the mitochondrial network in cells under resting condition (DMSO-treated cells; A, upper left panels) or treated with the mitochondrial uncoupler FCCP (30 µM; A, upper right panels). Mitochondria were visualized by staining for the mitochondrial marker TOMM20. Cytoplasm was divided into inner (A, middle panels) and outer (A, bottom panels) cytoplasmic regions. Quantification of total TOMM20 signal intensity (B, left graphs), number of spots (resembling individual mitochondria) normalized per cell area (B, middle graphs), and percentage of spots localized in the outer cytoplasmic region (B, right graphs) in cells under resting condition (DMSO-treated cells; top) or treated with FCCP (30 µM; Fig. 6B, bottom). In ZSD cells, the percentage of mitochondria that are mislocalized in the outer cytoplasmic region, following stress conditions, is markedly increased. Each dot represents the value obtained from the analysis of a different biological replicate, in which 500 cells were imaged and analyzed. Lines indicate means ± SD, n = 9. Images (C) showing the mitochondrial network visualized by staining for the mitochondrial marker TOMM20 or using the fluorescent dye MitoTracker, which accumulates in viable mitochondria dependently on mitochondria membrane potential. Quantification of total MitoTracker signal (corresponding to the dye accumulated into mitochondria) normalized for TOMM20 signal (D). ZSD patients display decreased MitoTracker accumulation. Each dot represents the value obtained from the analysis of a different biological replicate, in which 250 cells were imaged and analyzed. Lines indicate means ± SD, n = 12. Symbols indicate statistical significance versus pooled values of controls: ***, p < 0.001. Scale bar: 50 µm

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