title: A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis.
abstract: Mutations in the superoxide dismutase-1 (SOD1) gene occur in some forms of familial amyotrophic lateral sclerosis (ALS). To date about 150 mutations are known to involve this gene. Here we describe a novel missense mutation in exon 5 of the SOD1 gene in an Italian family with two members affected by ALS. Sequencing of the SOD1 gene was performed on 11 members of the family and 75 healthy controls. Electron microscopy was also performed on one ALS patient. We identified a heterozygous mutation in codon 137 leading to substitution of threonine by alanine. Further studies are needed to clarify the role of this alteration in ALS aetiopathogensis; nevertheless, T137A seems to represent a new missense mutation of the SOD1 gene in ALS patients.
authors.affiliation: Department of Experimental Pathology, University of Bologna.
authors.forename: Michela
authors.initials: M
authors.lastname: Visani
authors.forename: Dario
authors.initials: D
authors.lastname: de Biase
authors.forename: Ilaria
authors.initials: I
authors.lastname: Bartolomei
authors.forename: Rosaria
authors.initials: R
authors.lastname: Plasmati
authors.forename: Luca
authors.initials: L
authors.lastname: Morandi
authors.forename: Giovanna
authors.initials: G
authors.lastname: Cenacchi
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Salvi
authors.forename: Annalisa
authors.initials: A
authors.lastname: Pession
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D017433:Protein Structure, Secondary; D013482:Superoxide Dismutase / Q000737:chemistry / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1