Mitochondrial respiratory chain subunits, biogenesis markers and mitochondrial membrane potential in lymphoblasts from ALS patients with mutant SOD1 (mutSOD1) or unknown mutation (undSOD1) and respective controls.

Transcripts for mitochondrial oxidative phosphorylation subunits and mitochondrial biogenesis marker TFAM. Data were obtained for all cohorts (pool), C1-Female 46 years old, C2- Male 46 years old and C3-Male 26/27 years old. Gene expression was normalized to the geometric mean of TBP, YWHAZ, PUM1 and B2M. Mitochondrial potential was measured by flow cytometry by subtracting the mean values of TMRM fluorescence in FCCP treated lymphoblast to the mean values of TMRM fluorescence. Mitochondrial DNA copy number was assessed using primers for ND5 (mtDNA) and B2m (nuclear DNA). Western blot was used to semi-quantify protein expression levels of TFAM, PGC1α and TOM20 and protein normalization was performed by ponceau staining.