Figure 4.

BN-PAGE of OXPHOS Complexes

One-dimensional BN-PAGE analysis of OXPHOS complexes was performed on mitochondrial lysates isolated from probands’ (A) skeletal muscle (S1 and S3) and (B) fibroblasts (S1–S3) and age-matched control individuals (C1 and C2). The assembly of OXPHOS complexes was assessed by western blotting with antibodies against NDUFB8 (CI), SDHA (CII), UQCRC2 (CIII), COXI (CIV), and ATP5A (CV). An antibody against complex II subunit SDHA was used as a loading control. The ATP5A antibody detected two bands: the fully assembled complex V (F₀F₁) and the soluble F₁ subunit. The asterisk indicates a longer exposure time for the CV F₁ subunit. All experiments were repeated at least twice, and representative images are shown. Number of repeats: (A) n = 4 (S1) and n = 2 (S3); (B) n = 4 (S1) and n = 2 (S2 and S3).