Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Z-disk protein
alpha-actinin
cardiomyopathy
desmin (DES)
filamin C (FLNC)
myopalladin (MYPN)
pathogenic variant
titin (TTN)
Journal
Frontiers in physiology
ISSN: 1664-042X
Titre abrégé: Front Physiol
Pays: Switzerland
ID NLM: 101549006
Informations de publication
Date de publication:
2023
2023
Historique:
received:
13
01
2023
accepted:
21
02
2023
entrez:
20
3
2023
pubmed:
21
3
2023
medline:
21
3
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36935760
doi: 10.3389/fphys.2023.1143858
pii: 1143858
pmc: PMC10017460
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
1143858Informations de copyright
Copyright © 2023 Noureddine and Gehmlich.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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