title: Genetic aspects of Alzheimer's disease.
abstract: Alzheimer's disease (AD) is a neurodegenerative disorder with a complex etiology and pathogenesis. Mutations in presenilin 1 gene (PSEN1), located on chromosome 14, more rarely in amyloid-beta protein precursor (APP) on chromosome 21, and presenilin 2 genes (PSEN2) on chromosome 1, underlie the pathogenesis of most cases of familial early onset of AD (EOAD). The genetics of late-onset AD (LOAD) have been more enigmatic and the only confirmed risk factor for LOAD remains the apolipoprotein E4 allele (ApoE4) on chromosome 19. In this review, we discuss the genetics of AD with a focus on the role of the APP and presenilins.
authors.affiliation: Laboratory of Neurodegeneration, International Institute of Molecular and Cell Biology in Warsaw, Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland. czarekz@iimcb.gov.pl.
authors.forename: Cezary
authors.initials: C
authors.lastname: Zekanowski
authors.forename: Dorota
authors.initials: D
authors.lastname: Religa
authors.forename: Caroline
authors.initials: C
authors.lastname: Graff
authors.forename: Sławomir
authors.initials: S
authors.lastname: Filipek
authors.forename: Jacek
authors.initials: J
authors.lastname: Kuźnicki
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics*; D001176:Arthrogryposis / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D053764:Presenilin-1; D053766:Presenilin-2
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2