Abeta42, presenilins, and Alzheimer's disease.
The significance of amyloid beta protein, especially those ending at the 42nd residue (Abeta42), in the pathogenesis of familial Alzheimer's disease (FAD) linked to the mutations of presenilins, was examined by transfection studies using cultured cells and immunohistochemical analysis of autopsied brains. The levels of Abeta42 secreted from cells transfected with mutant presenilins linked to FAD, as well as the Abeta42 burden in the cortices of patients with presenilin mutation were elevated. Thus, mutations in presenilin genes may enhance the production and deposition of Abeta42 in the brains, thereby leading to Alzheimer's disease.
Iwatsubo
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Department of Neuropathology and Neuroscience, Faculty of Pharmaceutical Sciences, University of Tokyo, Japan. iwatsubo@mol.f.u-tokyo.ac.jp
D000544:Alzheimer Disease / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D016229:Amyloid beta-Peptides / Q000235:genetics* / Q000378:metabolism*; D001921:Brain / Q000473:pathology; D002478:Cells, Cultured; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D010446:Peptide Fragments / Q000235:genetics* / Q000378:metabolism*; D058225:Plaque, Amyloid / Q000473:pathology; D053764:Presenilin-1; D053766:Presenilin-2; D016707:Tissue Fixation; D014162:Transfection
D016229:Amyloid beta-Peptides; D008565:Membrane Proteins; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D010446:Peptide Fragments; D053764:Presenilin-1; D053766:Presenilin-2; C075222:amyloid beta-protein (1-42)