Open Access Open Badges Research article

Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells

Saba Abdul-Hussein1, Peter F M van der Ven2 and Homa Tajsharghi13*

Author Affiliations

1 Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, SE, 413 45, Sweden

2 Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, Bonn, 53121, Germany

3 Department of Clinical and Medical Genetics, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, SE, 413 45, Sweden

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BMC Musculoskeletal Disorders 2012, 13:262  doi:10.1186/1471-2474-13-262

Published: 29 December 2012



The formation of contractile myofibrils requires the stepwise onset of expression of muscle specific proteins. It is likely that elucidation of the expression patterns of muscle-specific sarcomeric proteins is important to understand muscle disorders originating from defects in contractile sarcomeric proteins.


We investigated the expression profile of a panel of sarcomeric components with a focus on proteins associated with a group of congenital disorders. The analyses were performed in cultured human skeletal muscle cells during myoblast proliferation and myotube development.


Our culture technique resulted in the development of striated myotubes and the expression of adult isoforms of the sarcomeric proteins, such as fast TnI, fast TnT, adult fast and slow MyHC isoforms and predominantly skeletal muscle rather than cardiac actin. Many proteins involved in muscle diseases, such as beta tropomyosin, slow TnI, slow MyBPC and cardiac TnI were readily detected in the initial stages of muscle cell differentiation, suggesting the possibility of an early role for these proteins as constituent of the developing contractile apparatus during myofibrillogenesis. This suggests that in disease conditions the mechanisms of pathogenesis for each of the mutated sarcomeric proteins might be reflected by altered expression patterns, and disturbed assembly of cytoskeletal, myofibrillar structures and muscle development.


In conclusion, we here confirm that cell cultures of human skeletal muscle are an appropriate tool to study developmental stages of myofibrillogenesis. The expression of several disease-associated proteins indicates that they might be a useful model system for studying the pathogenesis of muscle diseases caused by defects in specific sarcomeric constituents.

Myogenesis; Sarcomere; Myoblast; Skeletal muscle