Use of the ornithine transcarbamylase (OTC), as a marker for diagnosing brain damages
AssigneesGenoscreen, Institut National De La Sante Et De La Recherche Medicale (Inserm)
InventorsPhilippe Amouyel, Jean-Charles Lambert, Stéphanie Ferreira
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Abstract
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.
Claims10
A method for diagnosing Alzheimer's disease in a deceased individual, comprising a step of labelling a brain biopsy from said individual, with an anti-OTC antibody, wherein detection of ornithine transcarbamylase in cerebrovascular endothelial cells of said biopsy is indicative of Alzheimer's disease.
A method of aiding in diagnosis of Alzheimer's disease, non-Alzeimer's disease dementia or mild cognitive impairment in an individual, said method comprising a step of measuring ornithine transcarbamylase (OTC) level and/or activity in a sample of cerebrospinal fluid from said individual, wherein a level or activity of ornithine transcarbamylase which is higher than the level or activity which is statistically observed in healthy subjects is indicative of Alzheimer's disease, non-Alzeimer's disease dementia or mild cognitive impairment.
Dependencies are inferred from the claim text.