title: A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis.
abstract: Germline mutations in the presenilin 1 (PS1) gene apparently account for the majority of early-onset, familial Alzheimer's disease (AD). Using a mutation-screening strategy (denaturing gradient gel electrophoresis; DGGE), we analyzed a large family with early onset AD and seizures. The patients in this family showed a novel missense mutation in exon 5 of the PS1 gene (A to T change in codon 120, altering glutamine to aspartic acid). This novel mutation is located within the second hydrophilic domain of the molecule, a region not particularly involved in previously described germline mutations, and is of unknown biological significance. These results also demonstrate that DGGE can be used effectively to screen for mutations within this gene.
authors.affiliation: Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel. feitan@post.tau.ac.il
authors.forename: H
authors.initials: H
authors.lastname: Reznik-Wolf
authors.forename: T A
authors.initials: TA
authors.lastname: Treves
authors.forename: M
authors.initials: M
authors.lastname: Davidson
authors.forename: J
authors.initials: J
authors.lastname: Aharon-Peretz
authors.forename: P H
authors.initials: PH
authors.lastname: St George Hyslop
authors.forename: J
authors.initials: J
authors.lastname: Chapman
authors.forename: A D
authors.initials: AD
authors.lastname: Korczyn
authors.forename: B
authors.initials: B
authors.lastname: Goldman
authors.forename: E
authors.initials: E
authors.lastname: Friedman
mesh_terms: D000544:Alzheimer Disease / Q000150:complications / Q000235:genetics*; D001224:Aspartic Acid; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods; D005091:Exons; D005260:Female; D018698:Glutamic Acid; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D053764:Presenilin-1; D012640:Seizures / Q000150:complications / Q000235:genetics
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D001224:Aspartic Acid; D018698:Glutamic Acid