title: Amyloid precursor protein gene analysis in familial Alzheimer's disease cases: a lack of mutations in exons 16 and 17.
abstract: The beta-amyloid precursor protein (APP) gene (on chromosome 21), Presenilin 1 (PS1) gene (on chromosome 14) and Presenilin 2 (PS2) gene (on chromosome 1) are responsible for autosomal dominant early-onset Alzheimer's disease (EOAD). Missense mutations in these genes cause abnormal APP processing with subsequent overproduction of amyloidogenic and toxic A beta (42 peptide. A mutational analysis of APP, PS1, and PS2 genes can be used for both symptomatic and presymptomatic genetic testing and counselling in familial Alzheimer's disease (FAD). To contribute to our knowledge on genetic background of Alzheimer's disease in Poland, we screened APP mutations in a sample of familial EOAD cases from Poznan region. We did not find pathogenic mutations within exons 16 and 17 of the APP gene. Our study confirmed that APP gene mutations account only for a very small portion of FAD.
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland. annkowal@rose.man.poznan.pl
authors.forename: Anna
authors.initials: A
authors.lastname: Kowalska
authors.forename: Danuta
authors.initials: D
authors.lastname: Pruchnik-Wolińska
authors.forename: Jolanta
authors.initials: J
authors.lastname: Florczak
authors.forename: Józef
authors.initials: J
authors.lastname: Szczech
authors.forename: Wojciech
authors.initials: W
authors.lastname: Kozubski
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Rossa
authors.forename: Mieczysław
authors.initials: M
authors.lastname: Wender
mesh_terms: D000328:Adult; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D000595:Amino Acid Sequence; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001483:Base Sequence; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree
chemical_list: D016564:Amyloid beta-Protein Precursor