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A Caenorhabditis elegans model of the myosin heavy chain IIa E706K [corrected] mutation
Department of Pathology, Göteborg University, Sahlgrenska Hospital, Göteborg, Sweden.ORCID iD: 0000-0001-8854-5213
Chalmers University, Lundberg Laboratory, Göteborg, Sweden.
Department of Pathology, Göteborg University, Sahlgrenska Hospital, Göteborg, Sweden.
2005 (English)In: Annals of Neurology, ISSN 0364-5134, E-ISSN 1531-8249, Vol. 58, no 3, 442-448 p.Article in journal (Refereed) Published
Abstract [en]

Mutations in myosin heavy chain (MyHC) genes recently have been shown to be associated with various forms of congenital myopathies: myosin myopathies. The MyHC IIa E706K mutation is associated with congenital joint contractures, early-onset muscle weakness, and progressive course with moderate to severe muscle weakness later in life. To study the pathogenicity of this MyHC mutation, we investigated the effect of the corresponding mutation (E710K) in the major MyHC isoform (MyHC B) of the body wall muscle of the nematode Caenorhabditis elegans. Worms with null mutations in the MyHC B gene (unc-54) are severely paralyzed and depleted of thick filaments in the body wall muscle sarcomeres. unc-54 null mutants with extrachromosomal arrays of a gene construct including the entire wild-type unc-54 gene were partially rescued as determined by a motility assay and by morphological analysis of the body wall muscle. Analysis of unc-54 null mutants with extrachromosomal arrays of the unc-54 gene with the E710K mutation were severely paralyzed but showed formation of thick filaments in the body wall muscle. We conclude that the MyHC E706K (E710K in C. elegans) mutation is pathogenic and that the effect is primarily functional rather than structural because thick filaments are formed. The C. elegans model may be useful to study suspected pathogenic mutations in MyHC genes associated with human muscle diseases.

Place, publisher, year, edition, pages
John Wiley & Sons, 2005. Vol. 58, no 3, 442-448 p.
National Category
Neurology
Research subject
Medical sciences
Identifiers
URN: urn:nbn:se:his:diva-11976DOI: 10.1002/ana.20594ISI: 000231679200014PubMedID: 16130113ScopusID: 2-s2.0-24644455189OAI: oai:DiVA.org:his-11976DiVA: diva2:907015
Available from: 2016-02-25 Created: 2016-02-25 Last updated: 2016-03-08Bibliographically approved

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CiteExportLink to record
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