Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes.

ABSTRACT:

Background

About 20 % of nemaline myopathies are thus far related to skeletal muscle alpha-actin. Seven actin mutants located in different parts of the actin molecule and linked to different forms of the disease were selected and expressed as EGFP-tagged constructs in differentiated C2C12 mytoubes. Results were compared with phenotypes in patient skeletal muscle fibres and with previous expression studies in fibroblasts and C2C12 myoblasts/myotubes.

Results

Whereas EGFP wt-actin nicely incorporated into endogenous stress fibres and sarcomeric structures, the mutants showed a range of phenotypes, which generally changed upon differentiation. Many mutants appeared delocalized in myoblasts but integrated into endogenous actin structures after 4-6 days of differentiation, demons

SUBMITTER: Bathe FS 

PROVIDER: S-EPMC1779783 | biostudies-literature | 2007 Jan

REPOSITORIES: biostudies-literature