C - Chemistry – Metallurgy – 12 – N
Patent
C - Chemistry, Metallurgy
12
N
C12N 15/12 (2006.01) A01K 67/027 (2006.01) C07H 21/00 (2006.01) C07K 14/705 (2006.01) C07K 16/28 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01)
Patent
CA 2240737
One aspect of the invention relates to the identification of the molecular basis of long QT syndrome. More specifically, the invention has identified that mutated KVLQT1 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 KVLQT1 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 KVLQT1 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 the realization that KVLQT1 coassembles with minK to form a cardiac potassium channel. This allows one to assay for drugs which interact with this channel to identify new drugs which are useful for treating or preventing long QT.
Un aspect de cette invention se rapporte à l'identification de la base moléculaire du syndrome du Q-T long. Plus spécifiquement, on a identifié que KVLQT1 muté est à l'origine du syndrome du Q-T long. L'analyse de ce gène permettra d'établir un diagnostic précoce des sujets atteints du syndrome du Q-T long. Les méthodes diagnostiques consistent à analyser la séquence d'acides nucléiques du gène KVLQT1 chez un individu à étudier et la comparer à la séquence d'acides nucléiques du gène natif, non variant. Ou bien, il est possible d'analyser la séquence d'acides aminés de KVLQT1 à la recherche de mutations qui sont à l'origine du syndrome du Q-T long. Le diagnostic présymptomatique de ce syndrome permettra aux praticiens de traiter cette pathologie par une médication appropriée. Selon un second aspect de cette invention, on a découvert que KVLQT1 s'assemble à minK pour former un canal potassique cardiaque, ce qui permet de tester des médicaments qui ont une interaction avec ce canal afin d'identifier de nouveaux médicaments utiles dans le traitement et la prévention du Q-T long.
Burn Timothy C.
Connors Timothy D.
Curran Mark E.
Keating Mark T.
Landes Gregory M.
Genzyme Genetics
Gowling Lafleur Henderson Llp
University Of Utah Research Foundation
LandOfFree
A long qt syndrome gene which encodes kvlqt1 and its... does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with A long qt syndrome gene which encodes kvlqt1 and its..., we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and A long qt syndrome gene which encodes kvlqt1 and its... will most certainly appreciate the feedback.
Profile ID: LFCA-PAI-O-1742955