SOD1, from Bench to Bed: New Role for the Oldest Protein Implicated in ALS

Abstract

In , the first superoxide dismutase SOD mutation in amyotrophic lateral sclerosis ALS patients has been described by Rosen et al. successively, the scientific literature focused on the role of SOD in the pathogenesis of ALS. While a clear genetic scenario has been presented, heterogeneous data have been formulated regarding transcriptional and post-transcriptional regulation of SOD so far. In particular, the dilemma concerns the SOD protein expression, in the direction of a loss of function of the wild-type SOD or a toxic gain of function of the altered SOD , both in FALS mutant-SOD and in SALS misfolded-SOD . In this chapter, we focus on the evolution of scientific knowledge about SOD protein in ALS patients, reviewing in detail the results obtained using peripheral blood cells in this research field. To conclude, we propose a brief summary of the described clinical correlation and discuss the possible SOD implication as a biomarker of ALS.