title: F175S change and a novel polymorphism in presenilin-1 gene in late-onset familial Alzheimer's disease.
abstract: We analyzed at the molecular level with presenilin-1 (PS-1) and apolipoprotein E (apoE) genotyping the affected subjects and asymptomatic relatives of an Italian family with several members affected by late-onset familial Alzheimer's disease (AD). The screen for PS-1 gene mutations revealed a novel missense substitution phenylalanine 175 to serine in 1 of the affected individuals and 2 asymptomatic sons of the patient. This change was not found in other relatives of this family, as well as in 60 individuals with sporadic late-onset AD and 40 normal controls. Furthermore, a GG/TT substitution in the 3' end of intron 6 at the boundary with exon 7 was found in all relatives of the second and third generations of this family. All the affected relatives were female homo- or heterozygotes for apoE epsilon4 allele. This study provides evidence that a PS-1 gene missense change does not necessarily associate with early-onset disease, and can occur in single cases affected by late-onset disease.
authors.affiliation: Department of Geriatrics, Center for Aging Brain - Memory Unit, University of Bari, Italy.
authors.forename: A M
authors.initials: AM
authors.lastname: Colacicco
authors.forename: F
authors.initials: F
authors.lastname: Panza
authors.forename: A M
authors.initials: AM
authors.lastname: Basile
authors.forename: V
authors.initials: V
authors.lastname: Solfrizzi
authors.forename: C
authors.initials: C
authors.lastname: Capurso
authors.forename: A
authors.initials: A
authors.lastname: D'Introno
authors.forename: F
authors.initials: F
authors.lastname: Torres
authors.forename: S
authors.initials: S
authors.lastname: Capurso
authors.forename: S
authors.initials: S
authors.lastname: Cozza
authors.forename: R
authors.initials: R
authors.lastname: Flora
authors.forename: A
authors.initials: A
authors.lastname: Capurso
mesh_terms: D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D010649:Phenylalanine / Q000235:genetics*; D016133:Polymerase Chain Reaction; D053764:Presenilin-1; D012694:Serine / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D012694:Serine; D010649:Phenylalanine