UCL Discovery (University College London) · 1991 · 23 citations · 0 references
Life SciencesGeneticsMolecular GeneticsMedical GeneticsNeurodegenerationNeurogeneticsAlzheimer DiseaseDementia GeneticsMolecular Basis Of NeurodegenerationNeurodegenerative Disease GeneticsNeurodegenerative DiseasesNeurodegenerative DisordersAllelic EffectsAmyloid Beta PeptidesApp MutationsBase SubstitutionsEarly Onset Alzheimer DiseaseEarly-onset Dementia SusceptibilityHereditary Amyloidosis
A MUTATION at codon 717 of the beta-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family 1. This mutation has been reported in a further five out of approximately 100 families multiply affected by Alzheimer's disease 1-4. We have identified another family, F19, in which we have detected linkage between the beta-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 (ref. 5) in affected individuals from this family has revealed a base change producing a Val --> Gly substitution, also at codon 717. The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations.