Common polymorphism in scn5a implicated in drug-induced...

C - Chemistry – Metallurgy – 12 – N

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C12N 15/11 (2006.01) A01K 67/00 (2006.01) C07K 14/47 (2006.01) C12N 5/10 (2006.01) C12N 15/63 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2416545

The present invention is directed to a specific mutation in SCN5A which causes drug-induced torsade de pointes or ventricular fibrillation. Persons with the mutation are predisposed to developing drug-induced torsade de pointes or ventricular fibrillation when administered certain drugs. This predisposition can be diagnosed in accordance with the present invention by analyzing the DNA sequence of the SCN5A of an individual. By screening patients for the mutation, drug-induced torsade de pointes or ventricular fibrillation can be avoided. Furthermore, drugs can be tested to determine whether they will cause torsade de pointes or ventricular fibrillation.

L'invention concerne une mutation spécifique dans le SCN5A à l'origine de la torsade de pointes ou d'une fibrillation ventriculaire médicamenteuses. Les personnes concernées par cette mutation sont prédisposées à contracter une torsade de pointes ou une fibrillation ventriculaire médicamenteuses lorsque certains médicaments leur sont administrés. Cette prédisposition peut être diagnostiquée, selon l'invention, par analyse de la séquence d'ADN du SCN5A d'un individu. Un examen préliminaire servant à détecter la mutation chez des patients permet d'éviter une torsade de pointes ainsi qu'une fibrillation ventriculaire médicamenteuses. De plus, ces médicaments peuvent être testés pour déterminer s'ils seront à l'origine de torsade de pointes ou de fibrillation ventriculaire.

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