title: Increased A beta 42(43)-plaque deposition in early-onset familial Alzheimer's disease brains with the deletion of exon 9 and the missense point mutation (H163R) in the PS-1 gene.
abstract: Cerebral amyloid deposition is a neuropathological hallmark for Alzheimer's disease (AD). Immunohistochemical analysis of two A beta species (A beta 42/43 and A beta 40) deposition was undertaken using the carboxyl end-specific antibodies to determine the molecular alteration of these species in the brains of patients whose presenilin 1 (PS-1) gene, the major causative gene for the early-onset familial AD, bears the point mutation (H163R) and the deletion of exon 9. We found a marked increase in A beta 42-plaque deposition in brains of patients with PS-1 mutations compared with that in brains of those with sporadic AD. The results of immunohistochemical analysis indicate that both mutation and deletion in the PS-1 gene promote deposition of A beta 42-plaques indicating the pathological association of PS-1 and betaAPP/A beta 42 in early-onset familial AD.
authors.affiliation: Department of Molecular Biology, Tokyo Institute of Psychiatry, Setagayaku, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Ishii
authors.forename: K
authors.initials: K
authors.lastname: Ii
authors.forename: T
authors.initials: T
authors.lastname: Hasegawa
authors.forename: S
authors.initials: S
authors.lastname: Shoji
authors.forename: A
authors.initials: A
authors.lastname: Doi
authors.forename: H
authors.initials: H
authors.lastname: Mori
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism*; D016229:Amyloid beta-Peptides / Q000378:metabolism*; D001921:Brain / Q000378:metabolism*; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation; D053764:Presenilin-1
chemical_list: D016229:Amyloid beta-Peptides; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1