Voltage-gated calcium channels in genetic diseases.
Voltage-gated calcium channels (VGCCs) mediate calcium entry into excitable cells in response to membrane depolarization. During the past decade, our understanding of the gating and functions of VGCCs has been illuminated by the analysis of mutations linked to a heterogeneous group of genetic diseases called "calcium channelopathies". Calcium channelopathies include muscular, neurological, cardiac and vision syndromes. Recent data suggest that calcium channelopathies result not only from electrophysiological defects but also from altered alpha(1)/Ca(V) subunit protein processing, including folding, posttranslational modifications, quality control and trafficking abnormalities. Overall, functional analyses of VGCC mutations provide a more comprehensive view of the corresponding human disorders and offer important new insights into VGCC function. Ultimately, the understanding of these pathogenic channel mutations should lead to improved treatments of such hereditary diseases in humans.
Bidaud
Isabelle
I
Département de Physiologie, Institut de Génomique Fonctionnelle (IGF), CNRS UMR 5203--INSERM U661, Universités de Montpellier I and II, 141 rue de la Cardonille, 34094 Montpellier cedex 05, France.
Mezghrani
Alexandre
A
Swayne
Leigh Anne
LA
Monteil
Arnaud
A
Lory
Philippe
P
D000818:Animals; D015220:Calcium Channels / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D053447:Channelopathies / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D015640:Ion Channel Gating / Q000235:genetics*; D051379:Mice; D009154:Mutation; D009474:Neurons / Q000378:metabolism; D011487:Protein Conformation
D015220:Calcium Channels