Mutant genes in Familial British Dementia and Familial Danish Dementia

摘要

Two novel mutant amyloid protein precursors (ABriPP and ADanPP) and their amyloid peptides (ABri and ADan) associated with Familial British Dementia and Familial Danish Dementia, respectively, are disclosed. Genetic constructs comprising DNA encoding these proteins is used to produced transgenic mammals that are useful models for neurological diseases associated with amyloid deposits, neurofibrillary tangles, non-neuritic plaques, neuronal degeneration and behavioral deficits characteristic of dementia and other symptoms of the human diseases. These models are used for testing potential therapeutic agents and methods. Also provided is a DNA-based test for detecting the mutations, the mutant proteins and peptides, antibodies specific for the proteins and peptides. Immunoassays permit detection of the mutant proteins, particularly in affected brain tissue, or detection of an antibody specific for a mutant peptide.