title: Superoxide dismutase activity in lymphoblastoid cells from motor neurone disease/amyotrophic lateral sclerosis (MND/ALS) patients.
abstract: Point mutations in the gene encoding Cu,Zn superoxide dismutase (SOD1) are associated with autosomal dominant familial amyotrophic lateral sclerosis (FALS). We have measured Cu,Zn SOD activity in lymphoblastoid cells from affected and at risk FALS patients carrying mutations in the SOD1 gene, FALS patients without mutations in the SOD1 gene, individuals affected by the sporadic form of the disease (SALS), normal controls and individuals with other neurological abnormalities. The results show a significant decrease in Cu,Zn SOD activity in affected and at risk FALS individuals as compared to FALS patients without mutations, SALS individuals, normal and neurological controls. It is concluded that decreased SOD activity may contribute, together with other as yet unknown factors, to motor neurone demise.
authors.affiliation: Department of Neurology, Institute of Psychiatry, London, UK.
authors.forename: O
authors.initials: O
authors.lastname: Garofalo
authors.forename: D A
authors.initials: DA
authors.lastname: Figlewicz
authors.forename: S M
authors.initials: SM
authors.lastname: Thomas
authors.forename: R
authors.initials: R
authors.lastname: Butler
authors.forename: L
authors.initials: L
authors.lastname: Lebuis
authors.forename: G
authors.initials: G
authors.lastname: Rouleau
authors.forename: V
authors.initials: V
authors.lastname: Meininger
authors.forename: P N
authors.initials: PN
authors.lastname: Leigh
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D008213:Lymphocyte Activation; D008214:Lymphocytes / Q000201:enzymology*; D016472:Motor Neuron Disease / Q000201:enzymology* / Q000235:genetics; D017354:Point Mutation; D013482:Superoxide Dismutase / Q000235:genetics / Q000378:metabolism*
chemical_list: D013482:Superoxide Dismutase