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

Show full item record



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 .

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 organization: STEMM - Stem Cells and Metabolism Research Program
Juha Kere / Principal Investigator
Research Programs Unit
University of Helsinki
Date: 2019-03-27
Language: eng
Number of pages: 14
Belongs to series: Nature Communications
ISSN: 2041-1723
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.
3111 Biomedicine
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion

Files in this item

Total number of downloads: Loading...

Files Size Format View
s41467_019_09111_2.pdf 2.636Mb PDF View/Open

This item appears in the following Collection(s)

Show full item record