1. The Crossroad of Ion Channels and Calmodulin in Disease
- Author
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Janire Urrutia, Eider Nuñez, Alejandra Aguado, Arantza Muguruza-Montero, Oscar Casis, Covadonga Malo, and Alvaro Villarroel
- Subjects
st-segment elevation ,0301 basic medicine ,calmodulin ,binding ,CAM binding ,Review ,Disease ,lcsh:Chemistry ,0302 clinical medicine ,lcsh:QH301-705.5 ,Spectroscopy ,biology ,Chemistry ,ion channels ,General Medicine ,ca2+ release ,cardiac ryanodine receptor ,Computer Science Applications ,Cell biology ,Disease Susceptibility ,Ca2 release ,iq motif ,Ion Channel Gating ,Protein Binding ,Signal Transduction ,animal structures ,Calmodulin ,Sensitivity and Specificity ,Catalysis ,Cardiac dysfunction ,Inorganic Chemistry ,Structure-Activity Relationship ,03 medical and health sciences ,Animals ,Humans ,Protein Interaction Domains and Motifs ,Calcium Signaling ,Physical and Theoretical Chemistry ,Molecular Biology ,Gene ,Ion channel ,calcium ,c-terminus ,C-terminus ,Organic Chemistry ,mutations ,channelopathies ,kcnq2 encephalopathy ,030104 developmental biology ,Gene Expression Regulation ,axonal surface expression ,lcsh:Biology (General) ,lcsh:QD1-999 ,Mutation ,biology.protein ,030217 neurology & neurosurgery - 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. The Department of Industry, Tourism and Trade of the Government of the Autonomous Community of the Basque Country (Elkartek 2017 bG17 kk-2017/000843M50.17.EK.C6) and the Spanish Ministry of Economy, Industry and Competitiveness (BFU2015-66910 and RTI2018-097839) provided financial support for this work. E.N. is supported by a predoctoral grant of the Basque Government.
- Published
- 2019