Connexin 40 tissue specific gene mutations

C - Chemistry – Metallurgy – 12 – N

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C12N 15/12 (2006.01) A61K 48/00 (2006.01) A61P 9/06 (2006.01) C12Q 1/02 (2006.01) C12Q 1/68 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2563264

A method of detecting cardiac arrhythmia in a patient is described. This method involves determining whether there is a mutation in the nucleotide sequence, the amino acid sequence, or both, of connexin40 obtained from a patient. The mutation may be localized within the transmembrane domain of connexin40. Furthermore, there is described a method of identifying a compound for the treatment off cardiac arrhythmia. This method involves providing a cell culture that is characterized by having impaired intracellular trafficking, impaired electrical coupling, reduced gap junction plaque formation, reduced intracellular coupling, or a combination thereof, when compared to a wild-type cell. A compound is added to the cell culture, and restoration of intracellular trafficking, electrical coupling, gap junction plaque formation, intracellular coupling, or a combination thereof, is monitored.

Un procédé de détection d'arythmies cardiaques chez un patient impliquant la détermination d'une mutation dans la séquence nucléotidique, la séquence d'acides aminés, ou les deux, d'une connexine 40 obtenue à partir d'un patient. La mutation peut être localisée au sein du domaine transmembranaire de la connexine 40. Un procédé d'identification d'un composé pour le traitement d'arythmies cardiaques. Ce procédé consiste à fournir une culture cellulaire caractérisée par des voies d'acheminement intracellulaire déficientes, un couplage électrique déficient, une formation de plaque de jonction communicante réduite, un couplage intracellulaire réduit, ou leur combinaison, par rapport à une cellule sauvage. Un composé est ajouté à la culture cellulaire et la restauration des voies d'acheminement intracellulaire, de couplage électrique, de la formation de plaque de jonction communicante, du couplage intracellulaire ou de leur combinaison sont surveillés.

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