Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy
Abstract 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 ext...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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BMC
2023-11-01
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| Series: | Skeletal Muscle |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13395-023-00327-x |
| _version_ | 1797629914340392960 |
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| author | Matthias R. Lambert Emanuela Gussoni |
| author_facet | Matthias R. Lambert Emanuela Gussoni |
| author_sort | Matthias R. Lambert |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-03-11T11:00:28Z |
| format | Article |
| id | doaj.art-b84bc009df984d0481b3726d61a9edce |
| institution | Directory Open Access Journal |
| issn | 2044-5040 |
| language | English |
| last_indexed | 2024-03-11T11:00:28Z |
| publishDate | 2023-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Skeletal Muscle |
| spelling | doaj.art-b84bc009df984d0481b3726d61a9edce2023-11-12T12:33:38ZengBMCSkeletal Muscle2044-50402023-11-0113111810.1186/s13395-023-00327-xTropomyosin 3 (TPM3) function in skeletal muscle and in myopathyMatthias R. Lambert0Emanuela Gussoni1Division of Genetics and Genomics, Boston Children’s HospitalDivision of Genetics and Genomics, Boston Children’s HospitalAbstract 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.https://doi.org/10.1186/s13395-023-00327-xSkeletal muscleTropomyosinTPM3Thin filamentsCongenital myopathyRare diseases |
| spellingShingle | Matthias R. Lambert Emanuela Gussoni Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy Skeletal Muscle Skeletal muscle Tropomyosin TPM3 Thin filaments Congenital myopathy Rare diseases |
| 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 | Skeletal muscle Tropomyosin TPM3 Thin filaments Congenital myopathy Rare diseases |
| url | https://doi.org/10.1186/s13395-023-00327-x |
| work_keys_str_mv | AT matthiasrlambert tropomyosin3tpm3functioninskeletalmuscleandinmyopathy AT emanuelagussoni tropomyosin3tpm3functioninskeletalmuscleandinmyopathy |