The Crossroad of Ion Channels and Calmodulin in Disease

Int J Mol Sci. 2019 Jan 18;20(2):400. doi: 10.3390/ijms20020400.

Abstract

Calmodulin (CaM) is the principal Ca2+ sensor in eukaryotic cells, orchestrating the activity of hundreds of proteins. Disease causing mutations at any of the three genes that encode identical CaM proteins lead to major cardiac dysfunction, revealing the importance in the regulation of excitability. In turn, some mutations at the CaM binding site of ion channels cause similar diseases. Here we provide a summary of the two sides of the partnership between CaM and ion channels, describing the diversity of consequences of mutations at the complementary CaM binding domains.

Keywords: calcium; calmodulin; channelopathies; ion channels.

Publication types

  • Review

MeSH terms

  • Animals
  • Calcium / metabolism
  • Calcium Signaling
  • Calmodulin / chemistry
  • Calmodulin / genetics*
  • Calmodulin / metabolism*
  • Disease Susceptibility*
  • Gene Expression Regulation
  • Humans
  • Ion Channel Gating
  • Ion Channels / chemistry
  • Ion Channels / genetics*
  • Ion Channels / metabolism*
  • Mutation
  • Protein Binding
  • Protein Interaction Domains and Motifs
  • Sensitivity and Specificity
  • Signal Transduction
  • Structure-Activity Relationship

Substances

  • Calmodulin
  • Ion Channels
  • Calcium