Use of the ornithine transcarbamylase (otc), as a marker for...

Details Use of the ornithine transcarbamylase (otc), as a marker for... Use of the ornithine transcarbamylase (otc), as a marker for...

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) C07K 16/40 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2649462

The present invention pertains to the domain of brain diseases, and provides novel markers and methods for diagnosing a brain alteration in an individual, especially in patients suffering from neurodegenerative diseases such as Alzheimer's disease. The present invention also provides tools for evaluating the probability, for an individual, of developing the disease, as well as a target for identifying new drugs for treating neurodegenerative diseases such as Alzheimer's disease. In particular, the invention provides a genetic marker based on combination of two single nucleotide polymorphism, at positions -389 and -241 of the ornithine transcarbamylase (OTC) gene.

L'invention concerne le domaine des maladies cérébrales, et fournit de nouveaux marqueurs et des procédés destinés à diagnostiquer une altération cérébrale chez un individu, notamment chez des patients souffrant de maladies neurodédénératives, telles que la maladie d'Alzheimer. Cette invention concerne également des outils destinés à évaluer la probabilité, d'un individu, à développer la maladie, ainsi qu'une cible destinée à identifier de nouveaux médicaments destinés à traiter les maladies neurodédénératives, telles que la maladie d'Alzheimer. Plus particulièrement, l'invention concerne un marqueur génétique basé sur une combinaison de deux polymorphismes d'un nucléotide simple, au niveau des positions -389 et -241 du gène de l'ornithine transcarbamylase (OTC).

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