Aim: The aim of this study was to detect misfolded Cu/Zn SOD1 as a potential biomarker for amyotrophic lateral sclerosis (ALS). Materials & methods: Two ultrasensitive immunodetection assays were developed for the quantification of total and misfolded SOD1. Results: The detection of total and misfolded SOD1 was possible in human serum and cerebrospinal fluid. Total SOD1 was increased in cerebrospinal fluid from ALS patients. Misfolded SOD1 had low and variable expression in both control and ALS patient samples. Conclusion: These assays hold promise for improving our understanding of ALS and its detection, and could lead to more effective treatment options in the future. Further studies in larger cohorts are now required.
Keywords: amyotrophic lateral sclerosis; cerebrospinal fluid; conformational immunoassay; serum; single molecule array; superoxide dismutase 1.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease associated with protein misfolding, including Cu/Zn SOD1. In this study, we set up a method for detecting normal and pathological misfolded SOD1 in human serum and cerebrospinal fluid. SOD1 was increased in ALS and misfolded SOD1 had low and variable expression in both control and ALS. These assays holds promise for improving our understanding of ALS and its diagnosis.