[Presenilins in the genesis of Alzheimer s disease].
BACKGROUND
With their discovery in 1995, presenilins were put forward as molecules of unknown function but central to the aetiology of Alzheimer s disease.


METHODS
The fact that point and splice mutations lead to an increase in the amount of Ab peptide produced by the cells, provided further support for the amyloid theory about the origin of the disease and, on the other hand, placed these molecules in the central part of this theory. Different groups showed that these proteins had also roles in several cellular pathways, among those, the notch pathway is one of the most important, as it is with the interaction among presenilin 1 and b catenin. Recently, several works have suggested that presenilins are molecules involved in the processing of APP by being an integral part of the protein complex that process the precursor to produce the amyloid peptide.


CONCLUSIONS
In this paper, I will give an overview of some of the most recent work developed towards the identification of presenilin function and its involvement in Alzheimer s disease.
Pérez-Tur
J
J
Unitat de Genética Molecular; Institut de Biomedicina de Valencia (CSIC), Valencia, 46010, España. jpereztur@ibv.csic.es
D000544:Alzheimer Disease / Q000201:enzymology / Q000235:genetics / Q000378:metabolism*; D053829:Amyloid Precursor Protein Secretases; D016229:Amyloid beta-Peptides / Q000378:metabolism; D017209:Apoptosis / Q000502:physiology; D016282:Aspartic Acid Endopeptidases; D003598:Cytoskeletal Proteins / Q000378:metabolism; D010450:Endopeptidases / Q000378:metabolism; D006801:Humans; D008565:Membrane Proteins / Q000378:metabolism*; D016874:Neurofibrillary Tangles / Q000378:metabolism; D017354:Point Mutation / Q000235:genetics; D053764:Presenilin-1; D053766:Presenilin-2
D016229:Amyloid beta-Peptides; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2; D053829:Amyloid Precursor Protein Secretases; D010450:Endopeptidases; D016282:Aspartic Acid Endopeptidases; C509280:BACE1 protein, human
Presenilinas en la génesis de la enfermedad de Alzheimer.