METHOD FOR THE DIAGNOSIS OF PATHOLOGIES CHARACTERISED BY THE ANOMALOUS DEPOSITION OF AMYLOID IN ORGANS AND TISSUES BY DETECTING A MUTATION AT POSITION 673 IN APP770, AND VECTOR AND PEPTIDE FOR USE IN THE THERAPY OF SAID PATHOLOGIES

摘要

The patent refers to a screening method carried out on biological material isolated from human and/or animal organisms for determining the risk of human and/or animal pathologies expressing an anomalous deposition of &bgr;-amyloid and/or amyloid-like substance in human and/or animal organs and tissues, based on the investigation of the punctiform mutation Ala>Val in position 2 of the &bgr;-protein (corresponding to the Ala673Val mutation precursor of the &bgr;-protein containing 770 amino acids) in homozygosis or in heterozygosis. The patent provides for the possibility of: (1) creating unicellular or multicellular transgenic organisms expressing the Ala673Val mutation; (2) synthesising or producing peptides with such mutation and/or their derivatives and/or nucleic acids containing the same mutation; (3) using such products for studying the pathogenesis of the pathologies characterised by anomalous deposition of &bgr;-amyloid and/or amyloid substance and for the prevention, diagnosis and care of such diseases.