CONNEXIN 40 TISSUE SPECIFIC GENE MUTATIONS

摘要

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 of 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.