Analysis of lipid peroxidation and mitochondrial function. (A) Thiobarbituric Acid Reactive Substances (TBARS), an indirect marker of ROS was measured in SCA28 LCLs compared to controls (Kruskal-Wallis test, **: p = 0.0014; ns: not significative). SCA28 showed a two-fold increase level of TBARS suggesting the presence of hidden ROS damages, that however are not associated with an anomalous respiratory chain activity and total ATP content (not shown). (B) Western blot analysis of TFAM (Mitochondrial Transcription Factor A) protein showed an increase in SCA28 cell lines, suggesting an impairment in mtDNA turnover. (C) The analysis of selected proteins involved in mitochondrial fission/fusion showed a statistical significant reduction in DRP1 in SCA28 LCLs compared to controls LCLs (two-tailed t test p = 0.02).
Mancini et al. BMC Medical Genomics 2013 6:22 doi:10.1186/1755-8794-6-22