Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Olive, Montse (Institut d'Investigació Biomèdica de Bellvitge)
Engvall, Martin (Karolinska University Hospital and Karolinska Institutet (Suècia))
Ravenscroft, Gianina (University of Western Australia. Harry Perkins Institute of Medical Research)
Cabrera-Serrano, Macarena (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Jiao, Hong (Karolinska University Hospital and Karolinska Institutet (Suècia))
Bortolotti, Carlo Augusto (University of Modena and Reggio Emilia)
Pignataro, Marcello (University of Modena and Reggio Emilia)
Lambrughi, Matteo (University of Modena and Reggio Emilia)
Jiang, Haibo (The University of Western Australia)
Forrest, Alistair R. R. (University of Western Australia. Harry Perkins Institute of Medical Research)
Benseny Cases, Núria (ALBA Laboratori de Llum de Sincrotró)
Hofbauer, Stefan (BOKU-University of Natural Resources and Life Sciences)
Obinger, Christian (BOKU-University of Natural Resources and Life Sciences)
Battistuzzi, Gianantonio (University of Modena and Reggio Emilia)
Bellei, Marzia (University of Modena and Reggio Emilia)
Borsari, Marco (University of Modena and Reggio Emilia)
Di Rocco, Giulia (University of Modena and Reggio Emilia)
Viola, Helena M. (The University of Western Australia)
Hool, Livia C. (Victor Chang Cardiac Research Institute)
Cladera i Cerdà, Josep (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
Lagerstedt-Robinson, Kristina (Karolinska University Hospital and Karolinska Institutet (Suècia))
Xiang, Fengqing (Karolinska Institutet (Estocolm, Suècia))
Wredenberg, Anna (Karolinska Institutet (Estocolm, Suècia))
Miralles, Francesc (Hospital Universitari Son Espases (Palma de Mallorca, Balears))
Baiges, Juanjo (Hospital de Tortosa Verge de la Cinta)
Malfatti, Edoardo (Centre de Référence de Pathologie Neuromusculaire Paris-Est)
Romero, Norma B. (Centre de Référence de Pathologie Neuromusculaire Paris-Est)
Streichenberger, Nathalie (Université Claude Bernard Lyon)
Vial, Christophe (Electromyographie-Groupement Hospitalier Est)
Claeys, Kristl G. (KU Leuven-University of Leuven)
Straathof, Chiara S. M. (Leiden University Medical Center)
Goris, An (KU Leuven-University of Leuven)
Freyer, Christoph (Karolinska Institutet (Estocolm, Suècia))
Lammens, Martin (Radboud University Medical Center)
Bassez, Guillaume (East-Paris University (UPEC))
Kere, Juha (King's College London)
Clemente, Paula (Karolinska Institutet (Estocolm, Suècia))
Sejersen, Thomas (Karolinska Institutet (Estocolm, Suècia))
Udd, Bjarne (Tampere University Hospital)
Vidal, Noemí (Institut d'Investigació Biomèdica de Bellvitge)
Ferrer, Isidro (Universitat de Barcelona)
Edström, Lars (Karolinska Institutet (Estocolm, Suècia))
Wedell, Anna (Karolinska University Hospital and Karolinska Institutet (Suècia))
Laing, Nigel G. (University of Western Australia. Harry Perkins Institute of Medical Research)

Data:	2019
Resum:	Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O 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 O 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.
Ajuts:	Instituto de Salud Carlos III PI14-00738 Instituto de Salud Carlos III JR15-00042
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Adult ; European Continental Ancestry Group ; Female ; Heart Failure ; Heme ; Humans ; Inclusion Bodies ; Male ; Middle Aged ; Muscle Fibers, Skeletal ; Muscle Weakness ; Muscle, Skeletal ; Muscular Diseases ; Mutation ; Myocytes, Cardiac ; Myoglobin ; Oxygen ; Pedigree ; Respiratory Insufficiency ; Superoxides ; Tomography, X-Ray Computed
Publicat a:	Nature communications, Vol. 10 (March 2019) , art. 1396, ISSN 2041-1723

DOI: 10.1038/s41467-019-09111-2
PMID: 30918256

14 p, 2.6 MB

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