[From gene to disease; presenilins and Alzheimer disease].
A very small percentage (less than 5%) of all cases of Alzheimer's disease are autosomal dominant inherited and caused by a mutation in the presenilin protein (PS). The mutations are found on chromosome 14 (PS1) and chromosome 1 (PS2). Although the exact function of presenilin is still unknown, it seems to function as gamma-secretase or as a cofactor for it. This upsets the metabolic balance around the beta-amyloid precursor protein, which leads to the formation of senile amyloid plaques.
Roos
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Leids Universitair Medisch Centrum, afd. Neurologie, Postbus 9600, 2300 RC Leiden. r.a.c.roos.neurology@lumc.nl
Cruts
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D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D053764:Presenilin-1; D053766:Presenilin-2
D016564:Amyloid beta-Protein Precursor; D008565:Membrane Proteins; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2