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Mutations in  TPM2  result in a variety of myopathies characterised by variable clinical and morphological features. We used human and mouse cultured cells to study the effects of β-TM mutants. The mutants induced a range of phenotypes in human myoblasts, which generally changed upon differentiation to myotubes. Human myotubes transfected with the E41K-β-TM EGFP  mutant showed perinuclear aggregates. The G53ins-β-TM EGFP  mutant tended to accumulate in myoblasts but was incorporated into filamentous structures of myotubes. The K49del-β-TM EGFP  and E122K-β-TM EGFP  mutants induced the formation of rod-like structures in human cells. The N202K-β-TM EGFP  mutant failed to integrate into thin filaments and formed accumulations in myotubes. The accumulation of mutant β-TM EGFP  in the perinuclear and peripheral areas of the cells was the striking feature in C2C12. We demonstrated that human tissue culture is a suitable system for studying the early stages of altered myofibrilogenesis and morphological changes linked to myopathy-related β-TM mutants. In addition, the histopathological phenotype associated with expression of the various mutant proteins depends on the cell type and varies with the maturation of the muscle cell. Further, the phenotype is a combinatorial effect of the specific amino acid change and the temporal expression of the mutant protein.

Phenotypes of Myopathy-Related Beta-Tropomyosin Mutants in Human and Mouse Tissue Cultures