title: Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation.
abstract: We identified a missense mutation of the Cu/Zn superoxide dismutase (SOD) gene (Leu126Ser) in a Japanese family with ALS that included a patient with the homozygous mutation. The content of the Cu/Zn SOD polypeptide in erythrocytes was markedly reduced in the case with the homozygous mutation compared to those with the heterozygous mutation. We speculated that this reduction of the mutant Cu/Zn SOD molecule might be related to the severe clinical phenotype of the case.
authors.affiliation: Department of Neurology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kato
authors.forename: M
authors.initials: M
authors.lastname: Aoki
authors.forename: M
authors.initials: M
authors.lastname: Ohta
authors.forename: M
authors.initials: M
authors.lastname: Nagai
authors.forename: F
authors.initials: F
authors.lastname: Ishizaki
authors.forename: S
authors.initials: S
authors.lastname: Nakamura
authors.forename: Y
authors.initials: Y
authors.lastname: Itoyama
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000097:blood / Q000201:enzymology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D015536:Down-Regulation / Q000235:genetics*; D004912:Erythrocytes / Q000378:metabolism; D005091:Exons / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006720:Homozygote; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013482:Superoxide Dismutase / Q000097:blood / Q000172:deficiency* / Q000235:genetics*
chemical_list: D013482:Superoxide Dismutase