Francisco M Cruz, Álvaro Macías, Ana I Moreno-Manuel, Lilian K Gutiérrez, María Linarejos Vera-Pedrosa, Isabel Martínez-Carrascoso, Patricia Sánchez Pérez, Juan Manuel Ruiz Robles, Francisco J Bermúdez-Jiménez, Aitor Díaz-Agustín, Fernando Martínez de Benito, Salvador Arias-Santiago, Aitana Braza-Boils, Mercedes Martín-Martínez, Marta Gutierrez-Rodríguez, Juan A Bernal, Esther Zorio, Juan Jiménez-Jaimez, José Jalife
BACKGROUND: Andersen-Tawil syndrome type 1 is a rare heritable disease caused by mutations in the gene coding the strong inwardly rectifying K+ channel Kir2.1. The extracellular Cys (cysteine)122 -to-Cys154 disulfide bond in the channel structure is crucial for proper folding but has not been associated with correct channel function at the membrane. We evaluated whether a human mutation at the Cys122 -to-Cys154 disulfide bridge leads to Kir2.1 channel dysfunction and arrhythmias by reorganizing the overall Kir2...
March 18, 2024: Circulation Research