Mutation screening of manganese superoxide dismutase in amyotrophic lateral sclerosis

Seventy-seven cases of ALS were screened for mutations in the manganese sup eroxide dismutase gene (SOD2). DNA was extracted from CNS tissue and screen ed using single stranded conformation polymorphism and heteroduplex analysi s. No mutations were identified in the entire coding region of the SOD2 gen e. The known polymorphism in the mitochondrial targeting sequence was ident ified. No association was found between this polymorphism and ALS. A furthe r polymorphism was detected in the intronic sequence upstream of exon 4, th ough no association with ALS was demonstrated. We therefore conclude that m utations in SOD2 do not appear to cause ALS. NeuroReport 12:2319-2322 (C) 2 001 Lippincott Williams & Wilkins.