Figure 6.
Loss of AFG3L2 function with translation of the m.8611insC MT-ATP6 FS variant does not adversely affect mitochondrial protein synthesis. (A) Immunoblotting of whole-cell lysates from cultured human fibroblasts with the indicated MT-ATP6 genotypes following treatment with the indicated siRNAs. sc, scrambled control; asterisk, non-specific band detected with AFG3L2 antibody. (B) A representative image of 35S-methionine/cysteine metabolic labelling of mitochondrial protein synthesis in human fibroblasts segregating the m.8611insC variant treated with the indicated siRNAs. Cells were pulse-labelled for 30 min, followed by 60 and 180 min cold chase. (C) Quantification of the metabolic labelling from three independent experiments with the mean ± SD.