Modeling and simulation of E1784K mutation and sodium ionic channel diseases

作者：Zhang, Wen; Yuan, Yongfeng^*; Kong, Shuhan

来源：Transactions of Nanjing University of Aeronautics & Astronautics, 2011, 28(4): 385-392.

• Brugada syndrome
• Computational model
• E1784K mutation
• Ionic channels
• Long QT syndrome
• Model and simulation
• Refractory period
• Sodium channel functions

In the clinical reports, the E1784K mutation in SCN5A is recognized as a phenotypic overlap between the long QT syndrome (LQT3) and the Brugada syndrome (BrS) in the characteristics of electrocardiograms (ECGs) since the mutation can influence sodium channel functions. However it is still unclear if the E1784K mutation-induced sodium ionic channel alterations account for the overlap at tissue level. Thsu, a detailed computational model is developed to underpin the functional impacts of the E1784K mutation on the action potential (AP), the effective refractory period (ERP) and the abnormal ECG. Simulation results suggest that the E1784K mutation-induced sodium channel alterations are insufficient to produce the phenotypic overlap between LQT3 and BrS, and the overlap may arise from the complicated effects of the E1784K mutation-induced changes in sodium channel currents with an increase of the transient outward current ITo or a decrease of the L-type calcium current ICaL.

• 出版日期2011
• 单位华东师范大学