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See Latest ArticlesPKA-Dependent Biophysical Phenotype for V227F-KCNJ2 Mutation in Catecholaminergic Polymorphic Ventricular Tachycardia
Circulation: Arrhythmia and Electrophysiology, 08/28/09
Vega AL et al. – Heteromeric Kir2.1–V227F and WT channels showed an unusual latent loss of function biophysical phenotype that depended upon PKA–dependent Kir2.1 phosphorylation. This biophysical phenotype, distinct from typical ATS mutations, suggests a specific mechanism for PKA dependent IK1 dysfunction for this KCNJ2 mutation which correlates with adrenergic conditions underlying the clinical arrhythmia.
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