Functional characterization of KCNJ2 mutations associated with Andersen-Tawil syndrome and atrial tachycardia
LizenzStandard (Fassung vom 03.05.2003)
Andersen-Tawil syndrome is a triad of periodic paralysis, cardiac arrhythmias and dysmorphic features. The causative gene KCNJ2 encoding the Kir2.1 inward-rectifier potassium channel contributes to cell excitability and resting membrane potential in excitable tissues, including the heart, brain and skeletal muscle. To date more than 30 point mutations have been characterized, all involving residues that are highly conserved across all Kir channel subunits and that lie in functionally important domains of the channel. I have identified five additional mutations in the KCNJ2 gene: D78G, R82W, V93I, G215D, and G215R. With the help of the whole-cell recording mode of the patch-clamp technique I characterized electrophysiologically these Kir mutations. I performed confocal scanning laser microscopy to investigate the trafficking to the cell membrane of mutated channels. Additionally, my data show that the KCNJ2 gene is a new locus responsible for atrial tachycardia.
Erstellung / Fertigstellung
Normierte SchlagwörterSupraventrikuläre Tachykardie [GND]
Potassium channels, inwardly rectifying [MeSH]
Tachycardia, ectopic atrial [MeSH]