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Calmodulin Mutations Associated with Heart Arrhythmia: A Status Report.

Chazin WJ, Johnson CN
Int J Mol Sci. 2020 21 (4)

PMID: 32093079 · PMCID: PMC7073091 · DOI:10.3390/ijms21041418

Calmodulin (CaM) is a ubiquitous intracellular Ca 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 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.

MeSH Terms (9)

Arrhythmias, Cardiac Calcium Signaling Calmodulin Humans Ion Channels Long QT Syndrome Myocytes, Cardiac Ryanodine Receptor Calcium Release Channel Tachycardia, Ventricular

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