Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Montse Olivé
(1)
,
Martin Engvall
(2, 3)
,
Gianina Ravenscroft
(4)
,
Macarena Cabrera-Serrano
(5)
,
Hong Jiao
(3, 2)
,
Carlo Augusto Bortolotti
(6)
,
Marcello Pignataro
(6)
,
Matteo Lambrughi
(6)
,
Haibo Jiang
(4)
,
Alistair Forrest
(4)
,
Núria Benseny-Cases
(7)
,
Stefan Hofbauer
(8)
,
Christian Obinger
(8)
,
Gianantonio Battistuzzi
(6)
,
Marzia Bellei
(6)
,
Marco Borsari
(6)
,
Giulia Di Rocco
(6)
,
Helena Viola
(4)
,
Livia Hool
(9, 4)
,
Josep Cladera
(10)
,
Kristina Lagerstedt-Robinson
(3, 2)
,
Fengqing Xiang
(2)
,
Anna Wredenberg
(2, 3)
,
Francesc Miralles
,
Juan José Baiges
,
Edoardo Malfatti
(11, 12, 13, 14)
,
Norma B. Romero
(14, 13, 12, 11)
,
Nathalie Streichenberger
(15, 16, 17)
,
Christophe Vial
(15)
,
Kristl G. Claeys
(18, 19)
,
Chiara Straathof
(20)
,
An Goris
(19)
,
Christoph Freyer
(3, 2)
,
Martin Lammens
(21, 22, 23)
,
Guillaume Bassez
(24, 25, 26)
,
Juha Kere
(27, 2, 3, 28)
,
Paula Clemente
(2)
,
Thomas Sejersen
(2)
,
Bjarne Udd
(27, 29, 30)
,
Noemí Vidal
(1)
,
Isidre Ferrer
(1, 31, 32)
,
Lars Edström
(2)
,
Anna Wedell
(2, 3)
,
Nigel G. Laing
(4)
1
IDIBELL -
Institut d'Investigació Biomèdica de Bellvitge = Bellvitge Biomedical Research Institute
2 Karolinska Institutet [Stockholm]
3 Karolinska University Hospital [Stockholm]
4 UWA - The University of Western Australia
5 Hospital Universitario Virgen del Rocío [Sevilla]
6 UNIMORE - Università degli Studi di Modena e Reggio Emilia = University of Modena and Reggio Emilia
7 ALBA Synchrotron light source [Barcelone]
8 BOKU - Universität für Bodenkultur Wien = University of Natural Resources and Life Sciences [Vienne, Autriche]
9 Victor Chang Cardiac Research Institute
10 UAB - Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona
11 Institut de Myologie
12 SU - Sorbonne Université
13 Centre de recherche en Myologie – U974 SU-INSERM
14 CHU Pitié-Salpêtrière [AP-HP]
15 HCL - Hospices Civils de Lyon
16 INMG - Institut NeuroMyoGène
17 UCBL - Université Claude Bernard Lyon 1
18 University Hospitals Leuven [Leuven]
19 KU Leuven - Catholic University of Leuven = Katholieke Universiteit Leuven
20 LUMC - Leiden University Medical Center
21 UZA - Antwerp University Hospital [Edegem]
22 UA - University of Antwerp
23 Radboud University Medical Center [Nijmegen]
24 Hôpital Henri Mondor
25 IMRB - Institut Mondor de Recherche Biomédicale
26 UPEC Médecine - Université Paris-Est Créteil Val-de-Marne - Faculté de médecine
27 Helsingin yliopisto = Helsingfors universitet = University of Helsinki
28 King‘s College London
29 University of Tampere [Finland]
30 Tampere University Hospital
31 CIBERNED - Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas
32 University of Barcelona
2 Karolinska Institutet [Stockholm]
3 Karolinska University Hospital [Stockholm]
4 UWA - The University of Western Australia
5 Hospital Universitario Virgen del Rocío [Sevilla]
6 UNIMORE - Università degli Studi di Modena e Reggio Emilia = University of Modena and Reggio Emilia
7 ALBA Synchrotron light source [Barcelone]
8 BOKU - Universität für Bodenkultur Wien = University of Natural Resources and Life Sciences [Vienne, Autriche]
9 Victor Chang Cardiac Research Institute
10 UAB - Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona
11 Institut de Myologie
12 SU - Sorbonne Université
13 Centre de recherche en Myologie – U974 SU-INSERM
14 CHU Pitié-Salpêtrière [AP-HP]
15 HCL - Hospices Civils de Lyon
16 INMG - Institut NeuroMyoGène
17 UCBL - Université Claude Bernard Lyon 1
18 University Hospitals Leuven [Leuven]
19 KU Leuven - Catholic University of Leuven = Katholieke Universiteit Leuven
20 LUMC - Leiden University Medical Center
21 UZA - Antwerp University Hospital [Edegem]
22 UA - University of Antwerp
23 Radboud University Medical Center [Nijmegen]
24 Hôpital Henri Mondor
25 IMRB - Institut Mondor de Recherche Biomédicale
26 UPEC Médecine - Université Paris-Est Créteil Val-de-Marne - Faculté de médecine
27 Helsingin yliopisto = Helsingfors universitet = University of Helsinki
28 King‘s College London
29 University of Tampere [Finland]
30 Tampere University Hospital
31 CIBERNED - Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas
32 University of Barcelona
Montse Olivé
- Fonction : Auteur
- PersonId : 1046062
Hong Jiao
- Fonction : Auteur
- PersonId : 906736
Matteo Lambrughi
- Fonction : Auteur
- PersonId : 794896
- ORCID : 0000-0002-0894-8627
Stefan Hofbauer
- Fonction : Auteur
- PersonId : 1006202
Francesc Miralles
- Fonction : Auteur
Juan José Baiges
- Fonction : Auteur
Christophe Vial
- Fonction : Auteur
- PersonId : 16424
- IdHAL : christophe-vial
- ORCID : 0000-0002-9503-1605
- IdRef : 12744498X
An Goris
- Fonction : Auteur
- PersonId : 889771
Guillaume Bassez
- Fonction : Auteur
- PersonId : 1196296
- IdHAL : guillaume-bassez
Bjarne Udd
- Fonction : Auteur
- PersonId : 873506
Résumé
Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O2, 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 O2 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.
| Origine | Publication financée par une institution |
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