3-hydroxymethylglutaryl coenzyme a reductase and diagnosis...

Details 3-hydroxymethylglutaryl coenzyme a reductase and diagnosis... 3-hydroxymethylglutaryl coenzyme a reductase and diagnosis...

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) C12Q 1/26 (2006.01)

Patent

CA 2496398

The invention relates to methods and commercial packages for the diagnosis and/or prognostication of a dementia. The methods are based upon the assessment of a feature or features relating to 3-hydroxymethylglutaryl coenzyme A reductase (HMGR) gene, a polymorphism associated with the gene, the nature of mRNA transcripts produced, and/or HMGR protein activity. Applicants have determined that a decrease in HMGR activity correlates with Alzheimer disease. Applicants have further determined that the presence of a polymorphism in the HMGR gene correlates with Alzheimer disease. Applicants have identified two abnormal HMGR mRNA transcripts and have shown that their presence correlates , with Alzheimer disease.

Méthodes et kit commercial pour le diagnostic et / ou le pronostic de la démence. Lesdites méthodes sont basées sur l'évaluation d'une ou plusieurs caractéristiques relatives au gène 3-hydroxyméthylglutaryl-coenzyme-A réductase (HMGR), d'un polymorphisme associé au gène, de la nature des produits de transcription ARNm produits et / ou de l'activité protéique de HMGR. Les déposants ont déterminé qu'une baisse de l'activité de HMGR correspond à la maladie d'Alzheimer. Ils ont en outre déterminé que la présence d'un polymorphisme dans le gène HMGR correspond à la maladie d'Alzheimer. Ils ont encore identifié deux produits de transcription ARNm anormaux de HMGR et montré que leur présence correspond à la maladie d'Alzheimer.

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