Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy

Eric J. Horstick, Jeremy W. Linsley, James J. Dowling, Michael A. Hauser, Kristin K. McDonald, Allison Ashley-Koch, Louis Saint-Amant, Akhila Satish, Wilson W. Cui, Weibin Zhou, Shawn M. Sprague, Demetra S. Stamm, Cynthia M. Powell, Marcy C. Speer, Clara Franzini-Armstrong, Hiromi Hirata () and John Y. Kuwada ()
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Eric J. Horstick: Cellular and Developmental Biology, University of Michigan
Jeremy W. Linsley: Cell and Molecular Biology Program, University of Michigan
James J. Dowling: University of Michigan Medical Center
Michael A. Hauser: Duke University Medical Center
Kristin K. McDonald: Duke University Medical Center
Allison Ashley-Koch: Duke University Medical Center
Louis Saint-Amant: Cellular and Developmental Biology, University of Michigan
Akhila Satish: Cellular and Developmental Biology, University of Michigan
Wilson W. Cui: Cell and Molecular Biology Program, University of Michigan
Weibin Zhou: Cellular and Developmental Biology, University of Michigan
Shawn M. Sprague: Cellular and Developmental Biology, University of Michigan
Demetra S. Stamm: University of California, Davis
Cynthia M. Powell: The University of North Carolina at Chapel Hill
Marcy C. Speer: Center for Human Genetics, Duke University
Clara Franzini-Armstrong: University of Pennsylvania School of Medicine
Hiromi Hirata: Center for Frontier Research, National Institute of Genetics
John Y. Kuwada: Cellular and Developmental Biology, University of Michigan

Nature Communications, 2013, vol. 4, issue 1, 1-11

Abstract: Abstract Excitation–contraction coupling, the process that regulates contractions by skeletal muscles, transduces changes in membrane voltage by activating release of Ca2+ from internal stores to initiate muscle contraction. Defects in excitation–contraction coupling are associated with muscle diseases. Here we identify Stac3 as a novel component of the excitation–contraction coupling machinery. Using a zebrafish genetic screen, we generate a locomotor mutation that is mapped to stac3. We provide electrophysiological, Ca2+ imaging, immunocytochemical and biochemical evidence that Stac3 participates in excitation–contraction coupling in muscles. Furthermore, we reveal that a mutation in human STAC3 is the genetic basis of the debilitating Native American myopathy (NAM). Analysis of NAM stac3 in zebrafish shows that the NAM mutation decreases excitation–contraction coupling. These findings enhance our understanding of both excitation–contraction coupling and the pathology of myopathies.

Date: 2013
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DOI: 10.1038/ncomms2952

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