Sclerosi Laterale Amiotrofica: SOD1 è implicata nel danno cellulare anche nei casi sporadici

Amyotrophic Lateral Sclerosis: SOD1 is also involved in sporadic cases’ cellular damage Amyotrophic Lateral Sclerosis (ALS) is a multifactorial pathology characterized by a progressive loss of motor neurons. In 20% of cases the presentation is familiar and it is related to specific and predisposing genetic factors. Mutations in sod1 gene have been identified in 2% of familiar cases which are likely to cause the mutated protein to gain toxic properties for cells. The analysis of post-mortem nervous tissues of sporadic ALS patients showed that oxidized SOD1 wild type (wt) protein has the same alterations as the mutated one. Sporadic ALS patients’ peripheral tissues, especially lymphocytes, have been demonstrated as reliable models of pathophysiological alterations of the disease and their use leads to remove the variability of data due to post mortem degradation of the tissues. Our study, through peripheral lymphocytes’ analysis, demonstrates the presence of misfolded and oxidized SOD1wt protein in sporadic ALS cases as well and examines its expression in cellular compartments. The correlation between biological data and clinical parameters shows how different SOD1 localizations could influence disease duration.