Connecting Sarcomere Protein Mutations to Pathogenesis in Myopathies

151.3K

views

153

authors

34

articles

Editors

2

Jose Renato Pinto

Florida State University

Florida State University

Impact

Fetching...

About

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.

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.

Download ebook

Share

Editors

Jose Renato Pinto

Florida State University

Florida State University

Impact

151,280 Total views

109,943 Article views

35,960 Article downloads

5,377 Topic views

Published In

Journal Thumbnail

Frontiers in Physiology

Striated Muscle Physiology

About Frontiers Research Topics

With their unique mixes of varied contributions from Original Research to Review Articles, Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author.

Suggest a topic