Article
Proarrhythmic defects in Timothy syndrome require calmodulin kinase II.
Circulation - 25 Nov 2008
Thiel William H, Chen Biyi, Hund Thomas J, Koval Olha M, Purohit Anil, Song Long-Sheng, Mohler Peter J, Anderson Mark E
Abstract excerpt
BACKGROUND: Timothy syndrome (TS) is a disease of excessive cellular Ca(2+) entry and life-threatening arrhythmias caused by a mutation in the primary cardiac L-type Ca(2+) channel (Ca(V)1.2). The TS mutation causes loss of normal voltage-dependent inactivation of Ca(V)1.2 current (I(Ca)). During cellular Ca(2+) overload, the calmodulin-dependent protein kinase II (CaMKII) causes arrhythmias. We hypothesized that...
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