Mitochondrial polymorphisms linked to a predisposition for...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) G01N 33/50 (2006.01)

Patent

CA 2482812

The present invention relates to an in vitro method for diagnosing or detecting a predisposition to a condition at least partially characterised by inappropriate fibrosis or scarring, the method comprising examining the mitochondrial genome from a subject of interest to detect the presence of a genetic polymorphism or mutation linked to the development of the condition. Regions of the genome that may be examined include the 16srRNA region, the ND2 gene, the cytochrome b (complex III) region and the COI gene. The invention also relates to kits for use in the diagnostic method and the medical use of modulators of the mitochondrial genome.

L'invention concerne un procédé in vitro d'appréciation sommaire ou de détection d'une prédisposition à un état au moins partiellement caractérisé par des fibroses ou des cicatrisations inappropriées, le procédé consistant à examiner le génome mitochondrial sur un sujet déterminé, en vue de détecter la présence d'un polymorphisme ou d'une mutation génétique lié au développement de cet état. Des régions du génome pouvant être examinées comprennent la région 16srRNA, le gène ND2, la région cytochrome b (complexe III) et le gène COI. L'invention concerne en outre des kits utilisés dans le procédé d'appréciation sommaire et l'usage médical de modulateurs du génome mitochondrial.

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