Familial Alzheimer's disease: oxidative stress, beta-amyloid, presenilins, and cell death.
1. The basic etiology of Alzheimer's disease remains unknown, although four genes have so far been involved: beta-amyloid precursor protein, presenilin-1, presenilin-2 and apolipoprotein E genes. 2. The largest familial Alzheimer's disease (FAD) kindred so far reported belong to a point mutation in codon 280 that results in a glutamic acid-to-alanine substitution in presenilin-1 characterized in Antioquia, Colombia. 3. A hypothetical unified molecular mechanism model of cell death in FAD mediated by presenilin-1, beta-amyloid, and oxidative stress is proposed as an attempt to explain the mechanisms of neuronal loss in this neurodegenerative disorder.
Velez-Pardo
C
C
Department of Neurology, University Hospital, Medellin, Colombia.
Jimenez Del Rio
M
M
Lopera
F
F
D000544:Alzheimer Disease / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D016229:Amyloid beta-Peptides / Q000378:metabolism*; D000818:Animals; D016923:Cell Death; D006801:Humans; D008565:Membrane Proteins / Q000378:metabolism*; D018696:Neuroprotective Agents / Q000494:pharmacology; D018384:Oxidative Stress; D053764:Presenilin-1; D053766:Presenilin-2
D016229:Amyloid beta-Peptides; D008565:Membrane Proteins; D018696:Neuroprotective Agents; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2