Figure 5.

The p.Val33Leu variant destabilizes the carrier translocase and affects metabolite carrier levels. (A) Isolated mitochondria from control and patient fibroblasts were solubilized and resolved using BN-PAGE, followed by western blotting and detection using the indicated antibodies. (B) Patient immortalized fibroblast cells were electroporated with wild-type TIM22. Mitochondria from these cells and from non-electroporated control and patient cells were isolated, solubilized and analysed by BN-PAGE, followed by western blotting and detection using the indicated antibodies. (C) Isolated mitochondria from control and patient fibroblasts were subjected to SDS-PAGE and western blotting. (D) Quantification of western blotting signals using infrared secondary antibodies in patient mitochondria compared to control and normalized to the VDAC signal (SEM, n = 3).