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

Montse Olivé (), Martin Engvall, Gianina Ravenscroft, Macarena Cabrera-Serrano, Hong Jiao, Carlo Augusto Bortolotti, Marcello Pignataro, Matteo Lambrughi, Haibo Jiang, Alistair R. R. Forrest, Núria Benseny-Cases, Stefan Hofbauer, Christian Obinger, Gianantonio Battistuzzi, Marzia Bellei, Marco Borsari, Giulia Rocco, Helena M. Viola, Livia C. Hool, Josep Cladera, Kristina Lagerstedt-Robinson, Fengqing Xiang, Anna Wredenberg, Francesc Miralles, Juan José Baiges, Edoardo Malfatti, Norma B. Romero, Nathalie Streichenberger, Christophe Vial, Kristl G. Claeys, Chiara S. M. Straathof, An Goris, Christoph Freyer, Martin Lammens, Guillaume Bassez, Juha Kere, Paula Clemente, Thomas Sejersen, Bjarne Udd, Noemí Vidal, Isidre Ferrer, Lars Edström, Anna Wedell and Nigel G. Laing ()
Additional contact information
Montse Olivé: IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat
Martin Engvall: Karolinska Institutet
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
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
Josep Cladera: Universitat Autònoma de Barcelona
Kristina Lagerstedt-Robinson: Karolinska University Hospital, Solna
Fengqing Xiang: Karolinska Institutet
Anna Wredenberg: Karolinska University Hospital
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
Norma B. Romero: Université Sorbonne, UPMC Univ Paris 06, INSERM; UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière
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
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
Martin Lammens: Antwerp University Hospital
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
Paula Clemente: Karolinska Institutet
Thomas Sejersen: Karolinska Institutet
Bjarne Udd: University of Tampere
Noemí Vidal: IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat
Isidre Ferrer: IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat
Lars Edström: Center for Molecular Medicine, Karolinska Institutet
Anna Wedell: Karolinska Institutet
Nigel G. Laing: Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research

Nature Communications, 2019, vol. 10, issue 1, 1-14

Abstract: 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.

Date: 2019
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DOI: 10.1038/s41467-019-09111-2

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