Figure 1.

Oxygen consumption, citrate synthase activity, and RCR in PBMCs. A–E) oxphos measurements [NADH oxidase (A), succinate oxidase (B), α-glycerophosphate oxidoreductase (C), and cytochrome c oxidase activities (D)] were performed along with citrate synthase activity (E). Rates, normalized by citrate synthase, are shown in Table 2. F) The RCRu is reported as the ratio of oxygen uptake in the presence of FCCP and oligomycin in nonpermeabilized cells. Data were obtained from PBMCs from 12 controls, 21 asymptomatic premutation carriers, and 9 premutation carriers affected with FXTAS. Measurements were performed in duplicate for each sample (means ± sem). Statistical analysis was performed with ANOVA followed by Tukey’s post hoc test. P values are relative to controls.