Key result
Ectopically expressed myotilin and its myopathy-associated mutants localized dynamically in Z-bands, whereas C-terminal fragments formed aggregates that disrupted myofibril structure.
Population
Avian muscle cells, myotubes, and cardiomyocytes
Comparison
Ectopic expression of chicken and human… vs Full-length normal myotilin
Design
Preclinical
Authors
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Animal data implicate C-terminal myotilin fragments in myofibril disruption; hypothesis-generating and should not yet inform clinical practice.
The study demonstrates that while myopathy-associated single amino acid mutations do not alter myotilin dynamics, the C-terminal fragment alone disrupts myofibril structure.
Wang et al. (2011) studied this question. Ectopic expression of myotilin and its mutants/fragments vs. Full-length normal myotilin was evaluated on Localization and dynamics in muscle cells. Ectopically expressed myotilin and its myopathy-associated mutants localized dynamically in Z-bands, whereas C-terminal fragments formed aggregates that disrupted myofibril structure.
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