首页> 外国专利> PRODUCTS AND THEIR USE FOR THE DIAGNOSIS, PREVENTION AND/OR CARE OF HUMAN AND/OR ANIMAL PATHOLOGIES CHARACTERISED BY THE ANOMALOUS DEPOSITION OF B-AMYLOID AND/OR AMYLOID-LIKE SUBSTANCE IN HUMAN AND/OR ANIMAL ORGANS AND TISSUES, AND SCREENING METHOD FOR DETERMINING THE RISK OF SUCH PATHOLOGIES

PRODUCTS AND THEIR USE FOR THE DIAGNOSIS, PREVENTION AND/OR CARE OF HUMAN AND/OR ANIMAL PATHOLOGIES CHARACTERISED BY THE ANOMALOUS DEPOSITION OF B-AMYLOID AND/OR AMYLOID-LIKE SUBSTANCE IN HUMAN AND/OR ANIMAL ORGANS AND TISSUES, AND SCREENING METHOD FOR DETERMINING THE RISK OF SUCH PATHOLOGIES

机译:产品及其在人体和/或动物器官和组织中β-淀粉样和/或淀粉样物质的异常沉积所表征的对人类和/或动物病原体的诊断,预防和/或护理以及筛查方法确定此类疾病的风险

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 β-amyloid and/or amyloid-like substance in human and/or animal organs and tissues, based on the investigation of the punctiform mutation AlaVal in position 2 of the β-protein (corresponding to the Ala673Val mutation precursor of the β-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 β-amyloid and/or amyloid substance and for the prevention, diagnosis and care of such diseases.
机译:该专利涉及一种对从人类和/或动物有机体分离的生物材料进行的筛选方法,用于确定人类和/或动物病理学在人类和/或人类中表达β-淀粉样和/或淀粉样样物质异常沉积的风险。或动物器官和组织,基于对纯合或杂合中β蛋白2位点的点状突变Ala> Val(对应于含有770个氨基酸的β蛋白的Ala673Val突变前体)的研究。该专利提供了以下可能性:( 1 )创建表达Ala673Val突变的单细胞或多细胞转基因生物; ( 2 )合成或产生具有此类突变的肽和/或其衍生物和/或包含相同突变的核酸; ( 3 )使用此类产品来研究以β-淀粉样和/或淀粉样物质异常沉积为特征的病理的发病机理,以及预防,诊断和护理此类疾病。

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