Macias et al. generated a mouse model recapitulating the electrophysiological features of Andersen–Tawil syndrome type 1 (ATS1), a disease associated with life-threatening arrhythmias, via AAV-mediated in vivo expression of trafficking-deficient mutant Kir2.1Δ314-315 channel. The authors identify functional Kir2.1 receptors in sarcoplasmic reticulum (SR) microdomains and report that the ATS1 arrhythmogenic phenotype is due to the dysfunction of Kir2.1 receptors both in the sarcolemma and in the SR domains.
- Álvaro Macías
- Andrés González-Guerra
- José Jalife