Article
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
Science (New York, N.Y.) - 13 Mar 2009
Di Fede Giuseppe, Catania Marcella, Morbin Michela, Rossi Giacomina, Suardi Silvia, Mazzoleni Giulia, Merlin Marco, Giovagnoli Anna Rita, Prioni Sara, Erbetta Alessandra, Falcone Chiara, Gobbi Marco, Colombo Laura, Bastone Antonio, Beeg Marten, Manzoni Claudia, Francescucci Bruna, Spagnoli Alberto, Cantù Laura, Del Favero Elena, Levy Efrat, Salmona Mario, Tagliavini Fabrizio
Abstract excerpt
beta-Amyloid precursor protein (APP) mutations cause familial Alzheimer's disease with nearly complete penetrance. We found an APP mutation [alanine-673-->valine-673 (A673V)] that causes disease only in the homozygous state, whereas heterozygous carriers were unaffected, consistent with a recessive Mendelian trait of inheritance. The A673V mutation affected APP processing, resulting in enhanced beta-amyloid...
Topics
- Adult
- Alzheimer Disease
- Amino Acid Substitution
- Amyloid
- Amyloid beta-Peptides
- Amyloid beta-Protein Precursor
- Cell Line
- Dementia
- Female