Figure 3.

ISCA2 subject fibroblast display mitochondrial network disruption, severe mtDNA depletion and lipoylation defects. A and B: Images of control fibroblasts (A) display a ubiquitous mitochondrial distribution and networking by MitoTracker Red staining and a typical distribution of mtDNA nucleoids by PicoGreen staining, whereas Subject 1 cells (B) display blunted mitochondrial networking with an abnormal perinuclear distribution. C: Profound mtDNA depletion was determined in ISCA2 subject fibroblasts relative to controls. D: Quantification of mtDNA copy number in quiescent subject fibroblast lines. ABAT subject fibroblasts show a reduced mtDNA copy number in low serum media (LSM), but mtDNA copy number is rescued with the addition of dNTPs. ISCA2 deficiency subject fibroblasts show reduced mtDNA copy number in LSM media, and this remains unchanged despite the addition of dNTPs. Error bars indicate standard deviation. ***P < 0.001