AMYLOID PRECURSOR PROTEIN MUTATION AT CODON-713 (ALA-]VAL) DOES NOT CAUSE SCHIZOPHRENIA - NONPATHOGENIC VARIANT FOUND AT CODON-705 (SILENT)

In some families with early-onset Alzheimer's disease (AD) pathogenic mutations have been found in exons 16 and 17 of the amyloid precursor protein (APP) gene. One case of schizophrenia has been described with a mutation at codon 713. We have developed a single strand conformatio n polymorphism (SSCP) method that detects mutations in these exons and investigated 98 AD cases and 56 elderly healthy controls. An earlier reported mutation at codon 713 in a healthy control and a previously u ndescribed polymorphism at codon 705 in a sporadic case of AD were fou nd. These mutations are probably not related to disease pathogenesis.