his.sePublikasjoner
Endre søk
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
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 (engelsk)Inngår i: Annals of Neurology, ISSN 0364-5134, E-ISSN 1531-8249, Vol. 58, nr 3, s. 442-448Artikkel i tidsskrift (Fagfellevurdert) 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.

sted, utgiver, år, opplag, sider
John Wiley & Sons, 2005. Vol. 58, nr 3, s. 442-448
HSV kategori
Forskningsprogram
Medicin
Identifikatorer
URN: urn:nbn:se:his:diva-11976DOI: 10.1002/ana.20594ISI: 000231679200014PubMedID: 16130113Scopus ID: 2-s2.0-24644455189OAI: oai:DiVA.org:his-11976DiVA, id: diva2:907015
Tilgjengelig fra: 2016-02-25 Laget: 2016-02-25 Sist oppdatert: 2017-11-30bibliografisk kontrollert

Open Access i DiVA

Fulltekst mangler i DiVA

Andre lenker

Forlagets fulltekstPubMedScopus

Personposter BETA

Tajsharghi, Homa

Søk i DiVA

Av forfatter/redaktør
Tajsharghi, Homa
I samme tidsskrift
Annals of Neurology

Søk utenfor DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric

doi
pubmed
urn-nbn
Totalt: 746 treff
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf