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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Author

Listed:
  • Montse Olivé

    (IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat)

  • Martin Engvall

    (Karolinska Institutet
    Karolinska University Hospital)

  • Gianina Ravenscroft

    (Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research)

  • Macarena Cabrera-Serrano

    (Hospital Universitario Virgen del Rocío)

  • Hong Jiao

    (Karolinska Institutet
    Karolinska University Hospital)

  • Carlo Augusto Bortolotti

    (University of Modena and Reggio Emilia)

  • Marcello Pignataro

    (University of Modena and Reggio Emilia)

  • Matteo Lambrughi

    (University of Modena and Reggio Emilia)

  • Haibo Jiang

    (The University of Western Australia)

  • Alistair R. R. Forrest

    (Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research)

  • Núria Benseny-Cases

    (ALBA Synchrotron Light Source, Cerdanyola del Vallès)

  • Stefan Hofbauer

    (BOKU—University of Natural Resources and Life Sciences)

  • Christian Obinger

    (BOKU—University of Natural Resources and Life Sciences)

  • Gianantonio Battistuzzi

    (University of Modena and Reggio Emilia)

  • Marzia Bellei

    (University of Modena and Reggio Emilia)

  • Marco Borsari

    (University of Modena and Reggio Emilia)

  • Giulia Rocco

    (University of Modena and Reggio Emilia)

  • Helena M. Viola

    (The University of Western Australia)

  • Livia C. Hool

    (The University of Western Australia
    Victor Chang Cardiac Research Institute)

  • Josep Cladera

    (Universitat Autònoma de Barcelona)

  • Kristina Lagerstedt-Robinson

    (Karolinska University Hospital, Solna)

  • Fengqing Xiang

    (Karolinska Institutet)

  • Anna Wredenberg

    (Karolinska University Hospital
    Karolinska Institutet)

  • Francesc Miralles

    (Hospital Son Espases)

  • Juan José Baiges

    (Hospital Verge de la Cinta)

  • Edoardo Malfatti

    (Université Sorbonne, UPMC Univ Paris 06, INSERM; UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière
    Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris)

  • Norma B. Romero

    (Université Sorbonne, UPMC Univ Paris 06, INSERM; UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière
    Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris)

  • Nathalie Streichenberger

    (Centre de Pathologie et Neuropathologie Est, Hospices Civils de Lyon; Université Claude Bernard Lyon1, Institut NeuroMyogène CNRS UMR 5310—INSERM U1217; Institut NeuroMyogène)

  • Christophe Vial

    (Electromyographie—Groupement Hospitalier Est)

  • Kristl G. Claeys

    (University Hospitals Leuven
    KU Leuven—University of Leuven, Laboratory for Muscle diseases and Neuropathies, Department of Neurosciences, Experimental Neurology)

  • Chiara S. M. Straathof

    (Leiden University Medical Center)

  • An Goris

    (KU Leuven—University of Leuven, Laboratory for Neuroimmunology, Department of Neurosciences, Experimental Neurology)

  • Christoph Freyer

    (Karolinska University Hospital
    Karolinska Institutet)

  • Martin Lammens

    (Antwerp University Hospital
    University of Antwerp
    Radboud University Medical Center)

  • Guillaume Bassez

    (Neuromuscular Reference Center, Henri Mondor University Hospital AP-HP, INSERM U955, Team 10, Biology of the Neuromuscular System, East-Paris University (UPEC))

  • Juha Kere

    (Karolinska Institutet
    Karolinska University Hospital
    University of Helsinki and Folkhälsan Institute of Genetics
    King’s College London)

  • Paula Clemente

    (Karolinska Institutet)

  • Thomas Sejersen

    (Karolinska Institutet)

  • Bjarne Udd

    (University of Tampere
    Folkhälsan Genetic Institute, University of Helsinki
    Tampere University Hospital, University of Tampere)

  • Noemí Vidal

    (IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat)

  • Isidre Ferrer

    (IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat
    University of Barcelona, CIBERNEDHospitalet de LLobregat)

  • Lars Edström

    (Center for Molecular Medicine, Karolinska Institutet)

  • Anna Wedell

    (Karolinska Institutet
    Karolinska University Hospital)

  • Nigel G. Laing

    (Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research)

Abstract

Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O2, facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. Here, we identify a recurrent c.292C>T (p.His98Tyr) substitution in MB in fourteen members of six European families suffering from an autosomal dominant progressive myopathy with highly characteristic sarcoplasmic inclusions in skeletal and cardiac muscle. Myoglobinopathy manifests in adulthood with proximal and axial weakness that progresses to involve distal muscles and causes respiratory and cardiac failure. Biochemical characterization reveals that the mutant myoglobin has altered O2 binding, exhibits a faster heme dissociation rate and has a lower reduction potential compared to wild-type myoglobin. Preliminary studies show that mutant myoglobin may result in elevated superoxide levels at the cellular level. These data define a recognizable muscle disease associated with MB mutation.

Suggested Citation

  • Montse Olivé & Martin Engvall & Gianina Ravenscroft & Macarena Cabrera-Serrano & Hong Jiao & Carlo Augusto Bortolotti & Marcello Pignataro & Matteo Lambrughi & Haibo Jiang & Alistair R. R. Forrest & N, 2019. "Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions," Nature Communications, Nature, vol. 10(1), pages 1-14, December.
    • Handle: RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-019-09111-2
    DOI: 10.1038/s41467-019-09111-2
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