title: A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease.
abstract: Several mutations causing early-onset familial Alzheimer's disease (AD) have been detected in the presenilin 1 (PS-1) gene. Pathogenic mutations have also been described in an homologous gene, presenilin 2 (PS-2). In order to screen for mutations in these genes, cDNA samples from early-onset AD cases were analysed, using single strand conformation polymorphism (SSCP) and direct cDNA sequencing. Two missense mutations in the PS-1 gene were detected, a previously unidentified amino acid substitution Leu262Phe and an earlier reported amino acid substitution Glu318Gly. No disease-related mutations were found in the PS-2 gene.
authors.affiliation: Karolinska Institute, Department of Geriatric Medicine, Huddinge University Hospital, Novum, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Forsell
authors.forename: S
authors.initials: S
authors.lastname: Froelich
authors.forename: K
authors.initials: K
authors.lastname: Axelman
authors.forename: M
authors.initials: M
authors.lastname: Vestling
authors.forename: R F
authors.initials: RF
authors.lastname: Cowburn
authors.forename: L
authors.initials: L
authors.lastname: Lilius
authors.forename: J A
authors.initials: JA
authors.lastname: Johnston
authors.forename: B
authors.initials: B
authors.lastname: Engvall
authors.forename: K
authors.initials: K
authors.lastname: Johansson
authors.forename: A
authors.initials: A
authors.lastname: Dahlkild
authors.forename: M
authors.initials: M
authors.lastname: Ingelson
authors.forename: P H
authors.initials: PH
authors.lastname: St George-Hyslop
authors.forename: L
authors.initials: L
authors.lastname: Lannfelt
mesh_terms: D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics*; D019943:Amino Acid Substitution; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007930:Leucine; D008565:Membrane Proteins / Q000235:genetics*; D010649:Phenylalanine; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D053764:Presenilin-1; D053766:Presenilin-2; D017422:Sequence Analysis, DNA
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2; D010649:Phenylalanine; D007930:Leucine