Toxic mutants In Charcot's sclerosis

摘要

SIR - Orrell et al., while investigating the causes of familial amyotrophic lateral sclerosis (FALS, also known as Charcot's syndrome), have offered evidence, in red blood cells, for a mutation (G93R) in superoxide dismutase 1 (SOD1) that reduces theenzymatic activity of wild-type SOD1 in this autosomal dominant disease. As disease onset in this G93R family is around 36 years, compared with an average of 50 years for other mutants, it was proposed that dominant loss of activity underlies disease for this mutant. This view reinforced the initial proposal that disease arises from loss of activity.