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Acute rhabdomyolysis and inflammation

  • SSIEM 2014
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Rhabdomyolysis results from the rapid breakdown of skeletal muscle fibers, which leads to leakage of potentially toxic cellular content into the systemic circulation. Acquired causes by direct injury to the sarcolemma are most frequent. The inherited causes are: i) metabolic with failure of energy production, including mitochondrial fatty acid ß-oxidation defects, LPIN1 mutations, inborn errors of glycogenolysis and glycolysis, more rarely mitochondrial respiratory chain deficiency, purine defects and peroxysomal α-methyl-acyl-CoA-racemase defect (AMACR), ii) structural causes with muscle dystrophies and myopathies, iii) calcium pump disorder with RYR1 gene mutations, iv) inflammatory causes with myositis. Irrespective of the cause of rhabdomyolysis, the pathology follows a common pathway, either by the direct injury to sarcolemma by increased intracellular calcium concentration (acquired causes) or by the failure of energy production (inherited causes), which leads to fiber necrosis. Rhabdomyolysis are frequently precipitated by febrile illness or exercise. These conditions are associated with two events, elevated temperature and high circulating levels of pro-inflammatory mediators such as cytokines and chemokines. To illustrate these points in the context of energy metabolism, protein thermolability and the potential benefits of arginine therapy, we focus on a rare cause of rhabdomyolysis, aldolase A deficiency. In addition, our studies on lipin-1 (LPIN1) deficiency raise the possibility that several diseases involved in rhabdomyolysis implicate pro-inflammatory cytokines and may even represent primarily pro-inflammatory diseases. Thus, not only thermolability of mutant proteins critical for muscle function, but also pro-inflammatory cytokines per se, may lead to metabolic decompensation and rhabdomyolysis.

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Acknowledgments

We thank Dr. Asma Smahi, Dr. JL Cazanova, Dr Boisson, Dr. Patrick Nitschke, for helpful insights and support, and Marine Madrange, Mariane de Montalembert, Laurence Hubert for excellent technical help.

Funding

PDL received support from Association Française contre les Myopathies [grant numbers 13988, 15947], Fondation Bettencourt, Fondation Lejeune [grant 2014], ANR-13-BSV1-0020, Association Noa-Luu, Association hyperinsulinisme and association Nosangesduring the conduct of this study.

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For studies with human subjects include the following: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. The ethic committees of the Necker hospital approved the research proposal and inform consent were obtained from the sibling parents being included in the study.

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Authors and Affiliations

  1. Institut Imagine, Institut National de la Santé et de la Recherche Médicale, Unité 1163, 75015, Paris, France

    Yamina Hamel, Asmaa Mamoune, Laetitia Lallement & Pascale de Lonlay

  2. Université Paris Descartes, Sorbonne Paris Cité, Faculté de médecine Paris Descartes, 75015, Paris, France

    Yamina Hamel, Asmaa Mamoune, François-Xavier Mauvais, Florence Habarou, Laetitia Lallement, Chris Ottolenghi & Pascale de Lonlay

  3. Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, AP-HP, 75015, Paris, France

    Yamina Hamel, Asmaa Mamoune, Florence Habarou, Laetitia Lallement, Chris Ottolenghi & Pascale de Lonlay

  4. Institut National de la Santé et de la Recherché Médicale, Unité 1151 et Centre National de la Recherche Scientifique, Unité 8253, 75015, Paris, France

    François-Xavier Mauvais

  5. Service de Biochimie spécialisée, département de Biologie, 75015, Paris, France

    Florence Habarou & Chris Ottolenghi

  6. Université Pierre et Marie Curie, UM 76, INSERM U974, CNRS UMR 7215, Institut de Myologie, GHU Pitié-Salpétrière, AP-HP, Centre de Référence des Maladies Neuromusculaires, Paris, France

    Norma Beatriz Romero

  7. Institut Imagine, INSERM 1163, Paris Descartes University and Reference Center of Metabolic Diseases, Necker Hospital, 149 rue de Sèvres, 75015, Paris, France

    Pascale de Lonlay

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  1. Yamina Hamel
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  2. Asmaa Mamoune
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  3. François-Xavier Mauvais
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  5. Laetitia Lallement
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  6. Norma Beatriz Romero
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  7. Chris Ottolenghi
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  8. Pascale de Lonlay
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Correspondence to Pascale de Lonlay.

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Communicated by: Verena Peters

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Hamel, Y., Mamoune, A., Mauvais, FX. et al. Acute rhabdomyolysis and inflammation. J Inherit Metab Dis 38, 621–628 (2015). https://doi.org/10.1007/s10545-015-9827-7

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  • DOI: https://doi.org/10.1007/s10545-015-9827-7

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