Figure 4.

Cells from PS patients show impaired mitochondrial function. (A) Western blot from PS patient and control skin fibroblasts; both patients present with decreased MT-CO1 protein levels, while SDHA levels are unaffected. P1: PS patient 1, P2: PS patient 2. (B) Histogram depicting the MT-CO1 to SDHA ratio, as quantified from a western blot with samples depicted in panel A, in biological duplicates. Data are represented as the mean±SEM. **p<0.01 as calculated by a 2-tailed student’s t-test. (C) Seahorse respirometry on PS patient and control skin fibroblasts; both PS patients have reduced basal and maximal respiration. Injections of compounds during measurement are indicated with arrows. OCR: oxygen consumption rate, P1: PS patient 1, P2: PS patient 2.