NDLI: The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes.

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The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes.

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The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Fratangeli, Alessandra Carrera, Paola Passafaro, Maria Montrasio, Cristina Rosa, Patrizia Condliffe, Steven B. Saba, Elena Munasinghe, Nehan R. Ferrari, Maurizio
Description	Author Affiliation: Condliffe SB ( From the Department of Physiology, University of Otago, 9054 Dunedin, New Zealand.)
Abstract	Mutations in the CACNA1A gene, which encodes the pore-forming 1A subunit of the CaV2.1 voltage-gated calcium channel, cause a number of human neurologic diseases including familial hemiplegic migraine. We have analyzed the functional impact of the E1015K amino acid substitution located in the 'synprint' domain of the 1A subunit. This variant was identified in two families with hemiplegic migraine and in one patient with migraine with aura. The wild type (WT) and the E1015K forms of the GFP-tagged 1A subunit were expressed in cultured hippocampal neurons and HEK cells to understand the role of the variant in the transport activity and physiology of CaV2.1. The E1015K variant does not alter CaV2.1 protein expression, and its transport to the cell surface and synaptic terminals is similar to that observed for WT channels. Electrophysiological data demonstrated that E1015K channels have increased current density and significantly altered inactivation properties compared with WT. Furthermore, the SNARE proteins syntaxin 1A and SNAP-25 were unable to modulate voltage-dependent inactivation of E1015K channels. Overall, our findings describe a genetic variant in the synprint site of the CaV2.1 channel which is characterized by a gain-of-function and associated with both hemiplegic migraine and migraine with aura in patients.
ISSN	00219258
e-ISSN	1083351X
Journal	Journal of Biological Chemistry
Issue Number	47
Volume Number	288
Language	English
Publisher	American Society for Biochemistry and Molecular Biology (United States)
Publisher Date	2013-11-22
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Calcium Channels, N-Type Hippocampus Migraine With Aura Mutation, Missense Nerve Tissue Proteins Presynaptic Terminals Adolescent Amino Acid Substitution Animals Genetics Metabolism HEK293 Cells Pathology Ion Transport Rabbits Synaptosomal-Associated Protein 25 Syntaxin 1 Biochemistry Molecular Biology
Content Type	Text
Resource Type	Article
Subject	Cell Biology Biochemistry Molecular Biology

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