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Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy
The tropomyosin genes (TPM1-4) contribute to the functional diversity of skeletal muscle fibers. Since its discovery in 1988, the TPM3 gene has been recognized as an indispensable regulator of muscle contraction in slow muscle fibers. Recent advances suggest that TPM3 isoforms hold more extensive fu...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629095/ https://www.ncbi.nlm.nih.gov/pubmed/37936227 http://dx.doi.org/10.1186/s13395-023-00327-x |
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author | Lambert, Matthias R. Gussoni, Emanuela |
author_facet | Lambert, Matthias R. Gussoni, Emanuela |
author_sort | Lambert, Matthias R. |
collection | PubMed |
description | The tropomyosin genes (TPM1-4) contribute to the functional diversity of skeletal muscle fibers. Since its discovery in 1988, the TPM3 gene has been recognized as an indispensable regulator of muscle contraction in slow muscle fibers. Recent advances suggest that TPM3 isoforms hold more extensive functions during skeletal muscle development and in postnatal muscle. Additionally, mutations in the TPM3 gene have been associated with the features of congenital myopathies. The use of different in vitro and in vivo model systems has leveraged the discovery of several disease mechanisms associated with TPM3-related myopathy. Yet, the precise mechanisms by which TPM3 mutations lead to muscle dysfunction remain unclear. This review consolidates over three decades of research about the role of TPM3 in skeletal muscle. Overall, the progress made has led to a better understanding of the phenotypic spectrum in patients affected by mutations in this gene. The comprehensive body of work generated over these decades has also laid robust groundwork for capturing the multiple functions this protein plays in muscle fibers. |
format | Online Article Text |
id | pubmed-10629095 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-106290952023-11-08 Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy Lambert, Matthias R. Gussoni, Emanuela Skelet Muscle Review The tropomyosin genes (TPM1-4) contribute to the functional diversity of skeletal muscle fibers. Since its discovery in 1988, the TPM3 gene has been recognized as an indispensable regulator of muscle contraction in slow muscle fibers. Recent advances suggest that TPM3 isoforms hold more extensive functions during skeletal muscle development and in postnatal muscle. Additionally, mutations in the TPM3 gene have been associated with the features of congenital myopathies. The use of different in vitro and in vivo model systems has leveraged the discovery of several disease mechanisms associated with TPM3-related myopathy. Yet, the precise mechanisms by which TPM3 mutations lead to muscle dysfunction remain unclear. This review consolidates over three decades of research about the role of TPM3 in skeletal muscle. Overall, the progress made has led to a better understanding of the phenotypic spectrum in patients affected by mutations in this gene. The comprehensive body of work generated over these decades has also laid robust groundwork for capturing the multiple functions this protein plays in muscle fibers. BioMed Central 2023-11-07 /pmc/articles/PMC10629095/ /pubmed/37936227 http://dx.doi.org/10.1186/s13395-023-00327-x Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Review Lambert, Matthias R. Gussoni, Emanuela Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy |
title | Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy |
title_full | Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy |
title_fullStr | Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy |
title_full_unstemmed | Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy |
title_short | Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy |
title_sort | tropomyosin 3 (tpm3) function in skeletal muscle and in myopathy |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629095/ https://www.ncbi.nlm.nih.gov/pubmed/37936227 http://dx.doi.org/10.1186/s13395-023-00327-x |
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