Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels |
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| Authors: | Allan F Mock Jessica L Richardson Jui-Yi Hsieh Gina Rinetti Diane M Papazian |
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| Affiliation: | (1) Department of Physiology David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095-1751, USA;(2) Molecular Biology Institute University of California at Los Angeles, Los Angeles, California 90095-1570, USA;(3) Brain Research Institute University of California at Los Angeles, Los Angeles, California 90095-1761, USA |
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| Abstract: | Background The zebrafish has been suggested as a model system for studying human diseases that affect nervous system function and motor output. However, few of the ion channels that control neuronal activity in zebrafish have been characterized. Here, we have identified zebrafish orthologs of voltage-dependent Kv3 (KCNC) K+ channels. Kv3 channels have specialized gating properties that facilitate high-frequency, repetitive firing in fast-spiking neurons. Mutations in human Kv3.3 cause spinocerebellar ataxia type 13 (SCA13), an autosomal dominant genetic disease that exists in distinct neurodevelopmental and neurodegenerative forms. To assess the potential usefulness of the zebrafish as a model system for SCA13, we have characterized the functional properties of zebrafish Kv3.3 channels with and without mutations analogous to those that cause SCA13. |
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