title: Absence of mutations in the Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosis.
abstract: Familial amyotrophic lateral sclerosis (FALS) is an autosomal dominant, adult onset, neurological disorder caused by the degeneration of motor neurons of the cortex, brainstem and spinal cord. Recently, the defective gene in some FALS families was identified as the Cu/Zn superoxide dismutase (SOD1) gene. However, SOD1 mutations are present in approximately 20% of patients with FALS. We have tested the genes of two more free radical detoxifying enzymes, Mn superoxide dismutase (SOD2) and catalase by single strand conformation analysis (SSCA) for mutations in the remaining FALS cases. No mutations were found in the catalase enzyme in 73 unrelated FALS cases; mutations were not detected in the 66% of the SOD2 gene analyzed. FALS does not appear to be caused by mutations in the SOD2 nor the catalase genes.
authors.affiliation: Centre for Research in Neuroscience, McGill University, Montreal, Quebec, Canada.
authors.forename: J S
authors.initials: JS
authors.lastname: Parboosingh
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: V
authors.initials: V
authors.lastname: Meninger
authors.forename: D
authors.initials: D
authors.lastname: McKenna-Yasek
authors.forename: R H
authors.initials: RH
authors.lastname: Brown
authors.forename: D A
authors.initials: DA
authors.lastname: Figlewicz
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000209:etiology / Q000235:genetics*; D001483:Base Sequence; D002374:Catalase / Q000235:genetics*; D015342:DNA Probes; D005091:Exons / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D015342:DNA Probes; D002374:Catalase; D013482:Superoxide Dismutase