Structural and signaling proteins in the Z-disk and their role in cardiomyopathies
The sarcomere is the smallest functional unit of muscle contraction. It is delineated by a protein-rich structure known as the Z-disk, alternating with M-bands. The Z-disk anchors the actin-rich thin filaments and plays a crucial role in maintaining the mechanical stability of the cardiac muscle. A...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-03-01
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| Series: | Frontiers in Physiology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fphys.2023.1143858/full |
| _version_ | 1811161921639940096 |
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| author | Maya Noureddine Katja Gehmlich Katja Gehmlich |
| author_facet | Maya Noureddine Katja Gehmlich Katja Gehmlich |
| author_sort | Maya Noureddine |
| collection | DOAJ |
| description | The sarcomere is the smallest functional unit of muscle contraction. It is delineated by a protein-rich structure known as the Z-disk, alternating with M-bands. The Z-disk anchors the actin-rich thin filaments and plays a crucial role in maintaining the mechanical stability of the cardiac muscle. A multitude of proteins interact with each other at the Z-disk and they regulate the mechanical properties of the thin filaments. Over the past 2 decades, the role of the Z-disk in cardiac muscle contraction has been assessed widely, however, the impact of genetic variants in Z-disk proteins has still not been fully elucidated. This review discusses the various Z-disk proteins (alpha-actinin, filamin C, titin, muscle LIM protein, telethonin, myopalladin, nebulette, and nexilin) and Z-disk-associated proteins (desmin, and obscurin) and their role in cardiac structural stability and intracellular signaling. This review further explores how genetic variants of Z-disk proteins are linked to inherited cardiac conditions termed cardiomyopathies. |
| first_indexed | 2024-04-10T06:21:46Z |
| format | Article |
| id | doaj.art-80822cf26501441c9ee84a1425acfc5d |
| institution | Directory Open Access Journal |
| issn | 1664-042X |
| language | English |
| last_indexed | 2024-04-10T06:21:46Z |
| publishDate | 2023-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Physiology |
| spelling | doaj.art-80822cf26501441c9ee84a1425acfc5d2023-03-02T04:19:12ZengFrontiers Media S.A.Frontiers in Physiology1664-042X2023-03-011410.3389/fphys.2023.11438581143858Structural and signaling proteins in the Z-disk and their role in cardiomyopathiesMaya Noureddine0Katja Gehmlich1Katja Gehmlich2Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United KingdomInstitute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United KingdomCardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford, Oxford, United KingdomThe sarcomere is the smallest functional unit of muscle contraction. It is delineated by a protein-rich structure known as the Z-disk, alternating with M-bands. The Z-disk anchors the actin-rich thin filaments and plays a crucial role in maintaining the mechanical stability of the cardiac muscle. A multitude of proteins interact with each other at the Z-disk and they regulate the mechanical properties of the thin filaments. Over the past 2 decades, the role of the Z-disk in cardiac muscle contraction has been assessed widely, however, the impact of genetic variants in Z-disk proteins has still not been fully elucidated. This review discusses the various Z-disk proteins (alpha-actinin, filamin C, titin, muscle LIM protein, telethonin, myopalladin, nebulette, and nexilin) and Z-disk-associated proteins (desmin, and obscurin) and their role in cardiac structural stability and intracellular signaling. This review further explores how genetic variants of Z-disk proteins are linked to inherited cardiac conditions termed cardiomyopathies.https://www.frontiersin.org/articles/10.3389/fphys.2023.1143858/fullpathogenic variantZ-disk proteincardiomyopathyalpha-actininfilamin C (FLNC)titin (TTN) |
| spellingShingle | Maya Noureddine Katja Gehmlich Katja Gehmlich Structural and signaling proteins in the Z-disk and their role in cardiomyopathies Frontiers in Physiology pathogenic variant Z-disk protein cardiomyopathy alpha-actinin filamin C (FLNC) titin (TTN) |
| title | Structural and signaling proteins in the Z-disk and their role in cardiomyopathies |
| title_full | Structural and signaling proteins in the Z-disk and their role in cardiomyopathies |
| title_fullStr | Structural and signaling proteins in the Z-disk and their role in cardiomyopathies |
| title_full_unstemmed | Structural and signaling proteins in the Z-disk and their role in cardiomyopathies |
| title_short | Structural and signaling proteins in the Z-disk and their role in cardiomyopathies |
| title_sort | structural and signaling proteins in the z disk and their role in cardiomyopathies |
| topic | pathogenic variant Z-disk protein cardiomyopathy alpha-actinin filamin C (FLNC) titin (TTN) |
| url | https://www.frontiersin.org/articles/10.3389/fphys.2023.1143858/full |
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