C - Chemistry – Metallurgy – 12 – N
Patent
C - Chemistry, Metallurgy
12
N
C12N 15/12 (2006.01) A01K 67/027 (2006.01) C07K 14/705 (2006.01) C12N 5/10 (2006.01) C12Q 1/00 (2006.01) C12Q 1/02 (2006.01) C12Q 1/68 (2006.01)
Patent
CA 2240739
One aspect of the invention relates to the identification of the molecular basis of long QT syndrome. More specifically, the invention has identified that minK coassembles with KVQLT1 to form a cardiac potassium channel. Thus, it has been discovered that mutated minK causes long QT syndrome. The analysis of this gene will provide an early diagnosis of subjects with long QT syndrome. The diagnostic methods comprise analyzing the nucleic acid sequence of the minK gene of an individual to be tested and comparing them with the nucleic acid sequence of the native, non-variant gene. Alternatively, the amino acid sequence of minK may be analyzed for mutations which cause long QT syndrome. Presymptomatic diagnosis of long QT syndrome will enable practitioners to treat this disorder using existing medical therapy. A second aspect of the invention relates to assays for drugs which interact with the cardiac potassium channel to identify new drugs which are useful for treating or preventing long QT.
L'un des aspects de l'invention concerne l'identification de la base moléculaire du syndrome du QT long. Plus spécifiquement, l'invention a identifié que minK se coassemble avec KVLQT1 pour former le canal potassique cardiaque. Ainsi, on a découvert que le minK muté entraîne un syndrome du QT long. L'analyse de ce gène permettra un diagnostic précoce des sujets porteurs de ce syndrome. Les méthodes diagnostiques comprennent l'analyse de la séquence d'acides nucléiques du gène minK d'un individu à examiner, puis la comparaison de ladite séquence avec celle du gène natif non variant. On peut également analyser la séquence d'acides aminés de minK à la recherche de mutations entraînant un syndrome du QT long. Le diagnostic présymptomatique du syndrome du QT long permettra aux praticiens de traiter cette pathologie à l'aide d'un traitement médical existant. Un second aspect de l'invention concerne des dosages de médicaments interagissant avec le canal potassique cardiaque, dans le but d'identifier de nouveaux médicaments utiles pour traiter ou prévenir le QT long.
Curran Mark E.
Keating Mark T.
Sanguinetti Michael C.
Gowling Lafleur Henderson Llp
University Of Utah Research Foundation
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