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Myoglobinopathy is ...
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
- Article/chapterEnglish2019
Publisher, publication year, extent ...
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2019-03-27
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Springer Science and Business Media LLC,2019
Numbers
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LIBRIS-ID:oai:prod.swepub.kib.ki.se:140567635
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http://kipublications.ki.se/Default.aspx?queryparsed=id:140567635URI
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https://doi.org/10.1038/s41467-019-09111-2DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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 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.
Added entries (persons, corporate bodies, meetings, titles ...)
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Engvall, MKarolinska Institutet
(author)
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Ravenscroft, G
(author)
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Cabrera-Serrano, M
(author)
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Jiao, HKarolinska Institutet
(author)
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Bortolotti, CA
(author)
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Pignataro, M
(author)
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Lambrughi, M
(author)
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Jiang, HB
(author)
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Forrest, ARR
(author)
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Benseny-Cases, N
(author)
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Hofbauer, S
(author)
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Obinger, C
(author)
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Battistuzzi, G
(author)
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Bellei, M
(author)
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Borsari, M
(author)
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Di Rocco, G
(author)
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Viola, HM
(author)
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Hoo, LC
(author)
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Cladera, J
(author)
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Lagerstedt-Robinson, KKarolinska Institutet
(author)
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Xiang, FQ
(author)
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Wredenberg, AKarolinska Institutet
(author)
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Miralles, F
(author)
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Baiges, JJ
(author)
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Malfatti, E
(author)
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Romero, NB
(author)
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Streichenberger, N
(author)
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Via, C
(author)
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Claeys, KG
(author)
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Straathof, CSM
(author)
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Goris, A
(author)
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Freyer, CKarolinska Institutet
(author)
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Lammens, M
(author)
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Bassez, G
(author)
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Kere, JKarolinska Institutet
(author)
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Clemente, PKarolinska Institutet
(author)
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Sejersen, TKarolinska Institutet
(author)
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Udd, B
(author)
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Vidal, N
(author)
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Ferrer, I
(author)
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Edstrom, L
(author)
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Wedell, AKarolinska Institutet
(author)
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Laing, NG
(author)
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Karolinska Institutet
(creator_code:org_t)
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In:Nature communications: Springer Science and Business Media LLC10:1, s. 1396-2041-1723
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Olive, M
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Engvall, M
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Ravenscroft, G
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Cabrera-Serrano, ...
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Jiao, H
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Bortolotti, CA
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Pignataro, M
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Lambrughi, M
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Jiang, HB
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Forrest, ARR
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Benseny-Cases, N
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Hofbauer, S
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Obinger, C
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Battistuzzi, G
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Bellei, M
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Borsari, M
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Di Rocco, G
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Viola, HM
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Hoo, LC
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Cladera, J
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Lagerstedt-Robin ...
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Xiang, FQ
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Wredenberg, A
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Miralles, F
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Baiges, JJ
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Malfatti, E
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Romero, NB
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Streichenberger, ...
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Via, C
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Claeys, KG
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Straathof, CSM
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Goris, A
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Freyer, C
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Lammens, M
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Bassez, G
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Kere, J
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Clemente, P
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Sejersen, T
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Udd, B
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Vidal, N
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Ferrer, I
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Edstrom, L
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Wedell, A
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Laing, NG
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