Mink-related genes, formation of potassium channels and...

C - Chemistry – Metallurgy – 12 – N

Patent

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C12N 15/12 (2006.01) A01K 67/00 (2006.01) A01K 67/027 (2006.01) A01K 67/033 (2006.01) C07H 21/02 (2006.01) C07H 21/04 (2006.01) C07K 14/47 (2006.01) C07K 14/705 (2006.01) C07K 16/18 (2006.01) C12N 5/00 (2006.01) C12N 5/02 (2006.01) C12N 5/10 (2006.01) C12Q 1/00 (2006.01) C12Q 1/68 (2006.01) G01N 33/00 (2006.01) A61K 38/00 (2006.01)

Patent

CA 2369812

The present invention is directed to genes and gene products related to Min-K which form ion channels and to a process for diagnosis of ion channel disorders, including long QT syndrome (LQT). For example, KCNE2 forms IKr potassium channels and is associated with LQT. LQT is diagnosed in accordance with the present invention by analyzing the DNA sequence of KCNE2 of an individual to be tested and comparing the respective DNA sequence to the known DNA sequence of a normal KCNE2 gene. Alternatively, these MinK-related genes of an individual to be tested can be screened for mutations which cause ion channel disorders, including LQT. Prediction of ion channel disorders, including LQT, will enable practitioners to prevent the disorders using existing medical therapy. This invention is further directed to the discovery that the HERG and KCNE2 (also known as MiRP1) proteins coassemble to form a cardiac IKr potassium channel.

L'invention concerne des gènes et des produits géniques liés à Min-K qui forment des canaux ioniques, et un procédé de diagnostic de troubles des canaux ioniques, y compris le syndrome du QT long (LQT). Par exemple, KCNE2 forme des canaux potassiques I¿Kr? et est associé à LQT. Le procédé permettant de diagnostiquer LQT, selon l'invention, comporte les étapes consistant à analyser la séquence d'ADN de KCNE2 d'un sujet à tester, et à comparer la séquence d'ADN respective avec la séquence d'ADN connue d'un gène KCNE2 normal. Dans un autre mode de réalisation, ces gènes liés à MinK d'un sujet à tester peuvent être analysés en vue de rechercher des mutations provoquant des troubles des canaux ioniques, y compris LQT. La prédiction de troubles des canaux ioniques, y compris LQT, permet aux praticiens de prévenir des affections à l'aide de thérapies médicales existantes. L'invention concerne en outre la découverte que les protéines HERG et KCNE2 (également appelées MiRP1) s'assemblent pour former un canal potassique I¿Kr? cardiaque.

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