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Originally published In Press as doi:10.1074/jbc.M109325200 on October 25, 2001

J. Biol. Chem., Vol. 276, Issue 52, 49427-49434, December 28, 2001
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Episodic Ataxia Type-1 Mutations in the Kv1.1 Potassium Channel Display Distinct Folding and Intracellular Trafficking Properties*

Louis N. ManganasDagger , Sobia Akhtar§, Dana E. AntonucciDagger , Claire R. CampomanesDagger , J. Oliver Dolly§, and James S. TrimmerDagger

From the Dagger  Department of Biochemistry and Cell Biology, State University of New York, Stony Brook, New York 11794 and the § Department of Biochemistry, Imperial College of Science, Technology, and Medicine, London SW7 2AY, United Kingdom

Episodic ataxia type 1 (EA-1) is a neurological disorder arising from mutations in the Kv1.1 potassium channel alpha -subunit. EA-1 patients exhibit substantial phenotypic variability resulting from at least 14 distinct EA-1 point mutations. We found that EA-1 missense mutations generate mutant Kv1.1 subunits with folding and intracellular trafficking properties indistinguishable from wild-type Kv1.1. However, the single identified EA-1 nonsense mutation exhibits intracellular aggregation and detergent insolubility. This phenotype can be transferred to co-assembled Kv1 alpha - and Kvbeta -subunits associated with Kv1.1 in neurons. These results suggest that as in many neurodegenerative disorders, intracellular aggregation of misfolded Kv1.1-containing channels may contribute to the pathophysiology of EA-1.

* This work was supported by National Institutes of Health Grant NS34383 (to J. S. T.) and by the Wellcome Trust (to J. O. D.).The costs of publication of this article were defrayed in part by the payment of page charges. The article must therefore be hereby marked "advertisement" in accordance with 18 U.S.C. Section 1734 solely to indicate this fact.

To whom correspondence should be addressed: Dept. of Biochemistry and Cell Biology, State University of New York, Stony Brook, NY 11794-5215. Tel.: 631-632-9171; Fax: 631-632-9714; E-mail: james.trimmer@sunysb.edu.

Copyright © 2001 by The American Society for Biochemistry and Molecular Biology, Inc.
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