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Selenoprotein N: Its Role in Disease

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Abstract

Selenoprotein N is among the newly identified selenoproteins, initially discovered in silico with no known molecular function. It has become the focus of attention because mutations in the selenoprotein N gene are linked to a group of muscle disorders, now referred as SEPN1-related myopathies. An emerging view arising from recent findings is that the loss of selenoprotein N leads to cellular sensitivity to oxidative stress and loss of calcium homeostasis. Studies of animal models for SEPN1-Related Myopathies revealed the fate of sensitized muscle may depend on stresses to which it is subjected, and defects in the function of selenoprotein N-deficient muscle progenitor cells during development in zebrafish embryos or during muscle regeneration in fully developed mouse muscle. Dysfunction of these different processes raises significant questions regarding which of the phenotypic manifestations of SEPN1-Related Myopathies are initiated by events during development and which are progressive in nature arising from dysfunction of mature muscle.

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Acknowledgements

This work was supported by funds from the Centre National de la Recherche Scientifique, University Strasbourg and the Association Française contre les Myopathies (to AL), Institut National de la Santé et de la Recherche Médicale (to VA) and National Institutes of Health Grants (to DJG and MTH). PC received PhD fellowships from the Ministère de la Recherche et de L’Enseignement, University Paris 06 and Association Française contre les Myopathies.

Author information

Authors and Affiliations

  1. Architecture et Réactivité de l’ARN, Université de Strasbourg, CNRS, IBMC, 67084, Strasbourg, France

    Alain Lescure

  2. UPMC Univ Paris 06, IFR14, Paris, 75013, France

    Perrine Castets & Valérie Allamand

  3. Inserm, U974, Paris, 75013, France

    Perrine Castets & Valérie Allamand

  4. CNRS, UMR7215, Paris, 75013, France

    Perrine Castets & Valérie Allamand

  5. Institut de Myologie, Paris, 75013, France

    Perrine Castets & Valérie Allamand

  6. Department of Human Genetics, University of Utah, Salt Lake City, UT, USA

    David J. Grunwald & Michael T. Howard

Authors
  1. Alain Lescure
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  2. Perrine Castets
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  3. David J. Grunwald
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  4. Valérie Allamand
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  5. Michael T. Howard
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Corresponding author

Correspondence to Alain Lescure .

Editor information

Editors and Affiliations

  1. National Cancer Institute, Basic Research Laboratory, National Institutes of Health, Bethesda, 20892, Maryland, USA

    Dolph L. Hatfield

  2. University of Hawaii, Monoa, Dole Street 2444, Honolulu, 96822, Hawaii, USA

    Marla J. Berry

  3. , Division of Genetics, Department of Medi, Brigham and Women’s Hospital and Harvard, Avenue Louis Pasteur 77, Boston, 02115, USA

    Vadim N. Gladyshev

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Lescure, A., Castets, P., Grunwald, D.J., Allamand, V., Howard, M.T. (2011). Selenoprotein N: Its Role in Disease. In: Hatfield, D., Berry, M., Gladyshev, V. (eds) Selenium. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1025-6_22

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