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

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Olive , M , Engvall , M , Ravenscroft , G , Cabrera-Serrano , M , Jiao , H , Bortolotti , C A , Pignataro , M , Lambrughi , M , Jiang , H , Forrest , A R R , Benseny-Cases , N , Hofbauer , S , Obinger , C , Battistuzzi , G , Bellei , M , Borsari , M , Di Rocco , G , Viola , H M , Hoo , L C , Cladera , J , Lagerstedt-Robinson , K , Xiang , F , Wredenberg , A , Miralles , F , Jose Baiges , J , Malfatti , E , Romero , N B , Streichenberger , N , Via , C , Claeys , K G , Straathof , C S M , Goris , A , Freyer , C , Lammens , M , Bassez , G , Kere , J , Clemente , P , Sejersen , T , Udd , B , Vidal , N , Ferrer , I , Edstrom , L , Wedell , A & Laing , N G 2019 , ' Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions ' , Nature Communications , vol. 10 , 1396 . https://doi.org/10.1038/s41467-019-09111-2

Title: Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Author: Olive, Montse; Engvall, Martin; Ravenscroft, Gianina; Cabrera-Serrano, Macarena; Jiao, Hong; Bortolotti, Carlo Augusto; Pignataro, Marcello; Lambrughi, Matteo; Jiang, Haibo; Forrest, Alistair R. R.; Benseny-Cases, Nuria; 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; Jose Baiges, Juan; 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, Noemi; Ferrer, Isidre; Edstrom, Lars; Wedell, Anna; Laing, Nigel G.
Contributor: University of Helsinki, STEMM - Stem Cells and Metabolism Research Program
University of Helsinki, University of Helsinki
Date: 2019-03-27
Language: eng
Number of pages: 14
Belongs to series: Nature Communications
ISSN: 2041-1723
URI: http://hdl.handle.net/10138/300973
Abstract: 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.
Subject: REDUCTION POTENTIALS
MOLECULAR-MECHANISM
NITRITE REDUCTASE
OXIDATIVE STRESS
PROTEIN
METMYOGLOBIN
DYNAMICS
PREDICT
DEOXYMYOGLOBIN
IDENTIFICATION
3111 Biomedicine
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