Figure 1.

Immunoblot analysis and mitochondrial translation assay in fibroblasts from three patients with mutations in MTFMT (A). Immunoblot with an anti-MTFMT antibody showing virtually undetectable levels of MTFMT in patient fibroblasts. Porin was used as a loading control. (B) Mitochondrial translation experiment in fibroblasts from patients P1 and P2 and a control C1. The seven subunits of complex I (ND), one subunit of complex III (cyt b), three subunits of complex IV (COX) and two subunits of complex V (ATP) are indicated at the right of the figure. (C) Quantitation of the protein synthesis abnormalities in the three patients. Rates of synthesis of individual polypeptides were calculated for each patient and expressed relative to controls at 100%. Data for P1 (N = 4) are shown ± SEM relative to controls (N = 3). Data from P2 and P3 are the means of two separate experiments.