Journal
BIOCHIMIE
Volume 93, Issue 12, Pages 2080-2086Publisher
ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
DOI: 10.1016/j.biochi.2011.05.015
Keywords
Calcium channelopathies; Timothy syndrome; L-type calcium channels; Calcium current
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Funding
- Association Francaise contre les Myopathies, Agence Nationale pour la Recherche [ANR-07-BLAN-0102-03]
- Federation pour la Recherche sur le Cerveau
- Agence Nationale de la Recherche (ANR) [ANR-07-BLAN-0102] Funding Source: Agence Nationale de la Recherche (ANR)
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Within the voltage-gated calcium channels (Cav channels) family, there are four genes coding for the L-type Cav channels (Cavl). The Cav1 channels underly many important physiological functions like excitation contraction coupling, hormone secretion, neuronal excitability and gene transcription. Mutations found in the genes encoding the Cav channels define a wide variety of diseases called calcium channelopathies and all four genes coding the Cav1 channels are carrying such mutations. L-type calcium channelopathies include muscular, neurological, cardiac and vision syndromes. Among them, the Timothy syndrome (TS) is linked to missense mutations in CACNA1C, the gene that encodes the Ca(v)1.2 subunit. Here we review the important features of the Cav1 channelopathies. We also report on the specific properties of TS Ca(v)1.2 channels, which display non-inactivating calcium current as well as higher plasma membrane expression. Overall, we conclude that both electrophysiological and surface expression properties must be investigated to better account for the functional consequences of mutations linked to calcium channelopathies. (C) 2011 Elsevier Masson SAS. All rights reserved.
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