2013/08/21
Muscle disease gene Stac3 identified in fish
Motor Neural Circuit Laboratory • Hirata Group
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy
Horstick, E. J., Linsley, J. W., Dowling, J. J., Hauser, M. A., McDonald, K. K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W. W., Zhou, W., Sprague, S. M., Stamm, D. S., Powell, C. M., Speer, M. C., Franzini-Armstrong, C., Hirata, H.* and Kuwada, J. Y.* (*Corresponding authors)
Nature Communications 4: 1952 (2013). doi:10.1038/ncomms2952
Horstick, E. J., Linsley, J. W., Dowling, J. J., Hauser, M. A., McDonald, K. K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W. W., Zhou, W., Sprague, S. M., Stamm, D. S., Powell, C. M., Speer, M. C., Franzini-Armstrong, C., Hirata, H.* and Kuwada, J. Y.* (*Corresponding authors)
Nature Communications 4: 1952 (2013). doi:10.1038/ncomms2952
Native American myopathy (NAM) is a congenital muscular disease prevalent in the southern regions of the United States. However, the cause of this intractable myopathy has not been clarified so far. We originally studied mutant zebrafish that exhibited severe muscle weakness. The responsible gene encoded for a muscle protein Stac3. We found that Stac3 associates with dihydropyridine and ryanodine receptors and regulates calcium release during muscle contraction. Stac3-deficient zebrafish is now used for identifying drugs that mitigate the muscular defect in humans.
This is a collaborative work with Dr. John Y. Kuwada (University of Michigan).
Touch evoked swimming in wild-type (control) but not stac3 mutant zebrafish embryos at 48 hours post-fertilization. Panels show superimposed frames of swimming motion with the head embedded in agarose.
