Research Topic

Connecting Sarcomere Protein Mutations to Pathogenesis in Myopathies

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Well over 1000 mutations in myofilament, cytoskeletal and nucleoskeletal proteins have been linked to striated muscle myopathies. The mechanisms by which many of these mutations affect contractile function and subsequently elicit major disease symptoms have been well documented. However, it is less well known ...

Well over 1000 mutations in myofilament, cytoskeletal and nucleoskeletal proteins have been linked to striated muscle myopathies. The mechanisms by which many of these mutations affect contractile function and subsequently elicit major disease symptoms have been well documented. However, it is less well known how these mutations effect changes in signaling pathways, gene expression, and tissue remodeling that typically accompany myopathies. Several routes have been identified that could lead to changes in the functional state and localization of molecules in the cytoplasm, nucleus, or other compartments of the same myocyte: changes in force that influence mechanosensing proteins; changes in Ca2+ transients and diastolic Ca2+ levels that modulate Ca2+-dependent enzymes and signaling pathways; changes in ATP utilization that affect energy sensing systems such as mTOR; and most recently a realization that some myofilament proteins may have a direct role in signaling by entering the nucleus. Additional mechanisms require cross-talk with cells and tissues beyond the affected myocyte. This Frontiers Research Topic will encompass broad areas including altered biomechanical function, signaling and gene expression changes in myopathies caused by muscle protein mutations.
We encourage submission of a wide variety of article types for this Research Topic with the goal of presenting and discussing the broadest, most current views of how mutations in muscle structural and mechanical proteins alter myocyte signaling and gene expression. Original Research reports on this topic are of course welcome, but we also welcome Reviews and Mini Reviews, Hypothesis and Theory manuscripts, Perspective and Opinion statements arguing which pathways are most important for changes in signaling and gene regulation, and why.


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