Journal
NATURE COMMUNICATIONS
Volume 10, Issue -, Pages -Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/s41467-019-09111-2
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Funding
- Instituto de Salud Carlos III [PI14/00738]
- European Regional Development Fund. ERDF, a way to build Europe
- Genzyme Foundation
- Australian National Health and Medical Research Council [APP1002147, APP1035955, APP1154524, APP1080587, APP1146321, APP1117366]
- Cancer Research Trust
- MACA Ride to Conquer Cancer
- Australian Research Council [DP160101960]
- ISCIII [JR15/00042]
- Swedish Research Council [VR2016-02179, 2016-01082]
- Stockholm County Council [20170022, 20170831]
- Swedish Brain Foundation [FO2015-0146]
- Knut & Alice Wallenberg Foundation [KAW 2013.0026, KAW 2014.0293]
- KOOR, UZ Leuven, Belgium
- Research Council KU Leuven [C24/16/045]
- Royal Society Wolfson Research Merit Award
- Stiftelsen Frimurare Foundation
- Promobilia
- National Heart Foundation of Australia [101930]
- Swedish Research Council [2016-01082] Funding Source: Swedish Research Council
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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.
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