Figure 3 | European Journal of Human Genetics

Figure 3

From: Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Figure 3

PicoGreen staining of fibroblast cultures. Healthy control fibroblasts exhibit typical bright punctate nucleoid staining when stained with the fluorescent DNA dye PicoGreen (a). Co-staining these cells with the potential sensitive mitochondrial stain, TMRM demonstrated a normal polarized mitochondrial network in all cells (b). Fibroblasts from patient 3 mostly exhibit typical bright nucleoids staining, but some cells (arrow) lack puncta (green in on-line version) because they are depleted of mtDNA, termed mosaic mtDNA depletion (c). Co-staining of these cells with TMRM demonstrates that some of the mtDNA-depleted cells have a depolarized mitochondrial network (d). Fibroblasts grown from patient 17 umbilical cord also show mosaic mtDNA depletion (e), most cells having normal TMRM signal (f) but one depolarized cell is shown (arrow) consistent with mosaic mtDNA depletion. Scale bars=50 μm.

Back to article page