Nucleic acids and proteins related to alzheimer's disease,...

C - Chemistry – Metallurgy – 12 – N

Patent

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C12N 15/12 (2006.01) A01K 67/027 (2006.01) A61K 31/70 (2006.01) A61K 38/17 (2006.01) A61K 39/395 (2006.01) A61K 48/00 (2006.01) C07H 21/00 (2006.01) C07K 7/08 (2006.01) C07K 14/47 (2006.01) C07K 14/705 (2006.01) C07K 16/18 (2006.01) C12N 15/62 (2006.01) C12Q 1/00 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2244412

The present invention describes the identification, isolation, sequencing and characterization of several human genes which interact with the presenilins, mutations in which may lead to Familial Alzheimer's Disease. These presenilin- interacting protein genes may be involved in the pathways which, when affected by mutant presenilins, lead to the development of Alzheimer's Disease. In addition, mutations in the presenilin-interacting protein genes, even in the absence of defects in the presenilins, may be causative of Alzheimer's Disease. Nucleic acids and proteins comprising or derived from the presenilin- interacting proteins are useful in screening and diagnosing Alzheimer's Disease, in identifying and developing therapeutics for treatment of Alzheimer's Disease, and in producing cell lines and transgenic animals useful as models of Alzheimer's Disease.

L'invention concerne l'identification, l'isolement, la mise en séquence et la caractérisation de plusieurs gènes humains qui agissent en interaction avec les présénilines, au sein desquelles certaines mutations peuvent engendrer la maladie-familiale-d'Alzheimer. Ces gènes protéiniques agissant en interaction avec les présénilines peuvent intervenir dans les voies qui, sous l'effet de présénilines mutantes, déclenchent l'apparition de la maladie d'Alzheimer. Par ailleurs, même si les présénilines ne sont pas défectueuses, des mutations propres aux gènes protéiniques agissant en interaction avec les présénilines peuvent occasionner la maladie d'Alzheimer. Les acides nucléiques et les protéines englobant les protéines qui agissent en interaction avec les présénilines ou issues de ces protéines sont utiles pour déceler et diagnostiquer la maladie d'Alzheimer, pour établir et mettre au point les moyens thérapeutiques du traitement de la maladie et pour élaborer des lignées cellulaires et des animaux transgéniques susceptibles d'être utilisés comme modèles relatifs à la maladie d'Alzheimer.

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