期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 21, 期 4, 页码 -出版社
MDPI
DOI: 10.3390/ijms21041418
关键词
calmodulin; Ca2+ sensing; Ca2+ signaling; ion channels; ion channel regulation; disease associated mutations; LTCC; RyR2; LQT; CPVT
资金
- NIH [R35 GM118089]
- Vanderbilt University
Calmodulin (CaM) is a ubiquitous intracellular Ca2+ sensing protein that modifies gating of numerous ion channels. CaM has an extraordinarily high level of evolutionary conservation, which led to the fundamental assumption that mutation would be lethal. However, in 2012, complete exome sequencing of infants suffering from recurrent cardiac arrest revealed de novo mutations in the three human CALM genes. The correlation between mutations and pathophysiology suggests defects in CaM-dependent ion channel functions. Here, we review the current state of the field for all reported CaM mutations associated with cardiac arrhythmias, including knowledge of their biochemical and structural characteristics, and progress towards understanding how these mutations affect cardiac ion channel function.
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