LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms

Conclusion
Distinct LQT1 mutations in KCNQ1 assembly domain decrease IKs using unique combinations of biophysical and trafficking mechanisms. Functional deficits in IKs observed in heterologous cells are mostly, but not completely, recapitulated in adult rat cardiomyocytes. A ‘methodological chain’ combining approaches in heterologous cells and cardiomyocytes provides mechanistic insights that may help advance personalized therapy for LQT1 mutations.

Source: Cardiovascular Research - November 24, 2014 Category: Cardiology Authors: Aromolaran, A. S., Subramanyam, P., Chang, D. D., Kobertz, W. R., Colecraft, H. M. Tags: Ion channels and arrhythmias Source Type: research