Structural and signaling proteins in the Z-disk and their role in cardiomyopathies

Maya Noureddine, Katja Gehmlich

Research output: Contribution to journalReview articlepeer-review

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Abstract

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.

Original languageEnglish
Article number1143858
Number of pages22
JournalFrontiers in Physiology
Volume14
DOIs
Publication statusPublished - 2 Mar 2023

Bibliographical note

Copyright © 2023 Noureddine and Gehmlich.

Keywords

  • pathogenic variant
  • Z-disk protein
  • cardiomyopathy
  • alpha-actinin
  • ilamin C (FLNC)
  • titin (TTN)
  • myopalladin (MYPN)
  • desmin (DES)
  • Physiology
  • filamin C (FLNC)

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