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2019-01-01

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cc by (c) Olivé i Plana, Montserrat et al., 2019
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/171596

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

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https://doi.org/10.1038/s41467-019-09111-2

Resum

Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O-2, 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-2 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.

Matèries

Malalties musculars, Mutació (Biologia)

Matèries (anglès)

Muscular Diseases, Mutation (Biology)

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Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

OLIVÉ I PLANA, Montserrat, ENGVALL, Martin, RAVENSCROFT, Gianina, CABRERA SERRANO, Macarena, JIAO, Hong, BORTOLOTTI, Carlo augusto, PIGNATARO, Marcello, LAMBRUGHI, Matteo, JIANG, Haibo, FORREST, Alistair r. r., BENSENY CASES, Núria, HOFBAUER, Stefan, OBINGER, Christian, BATTISTUZZI, Gianantonio, BELLEI, Marzia, BORSARI, Marco, DI ROCCO, Giulia, VIOLA, Helena m., HOO, Livia c., CLADERA, Josep, LAGERSTEDT ROBINSON, Kristina, XIANG, Fengqing, WREDENBERG, Anna, MIRALLES, Francesc, BAIGES, Juan josé, MALFATTI, Edoardo, ROMERO, Norma b., STREICHENBERGER, Nathalie, VIA, Christophe, CLAEYS, Kristl g., STRAATHOF, Chiara s.m, GORIS, An, FREYER, Christoph, LAMMENS, Martin, BASSEZ, Guillaume, KERE, Juha, CLEMENTE, Paula, SEJERSEN, Thomas, UDD, Bjarne, VIDAL, Noemí, FERRER, Isidro (ferrer abizanda), EDSTROM, Lars, WEDELL, Anna, LAING, Nigel g.. Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions. _Nature Communications_. 2019-01-01. Vol. 10, núm. 1396. [consulta: 24 de gener de 2026]. [Disponible a: https://hdl.handle.net/2445/171596]

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