Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

The cardiac Z-line at the boundary between sarcomeres is a multiprotein complex connecting the contractile apparatus with the cytoskeleton and the extracellular matrix. The Z-line is important for efficient force generation and transmission as well as the maintenance of structural stability and integrity. Furthermore, it is a nodal point for intracellular signaling, in particular mechanosensing and mechanotransduction. Mutations in various genes encoding Z-line proteins have been associated with different cardiomyopathies, including dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, restrictive cardiomyopathy, and left ventricular noncompaction, and mutations even within the same gene can cause widely different pathologies. Animal models have contributed to a great advancement in the understanding of the physiological function of Z-line proteins and the pathways leading from mutations in Z-line proteins to cardiomyopathy, although genotype–phenotype prediction remains a great challenge. This review presents an overview of the currently available animal models for Z-line and Z-line associated proteins involved in human cardiomyopathies with special emphasis on knock-in and transgenic mouse models recapitulating the clinical phenotypes of human cardiomyopathy patients carrying mutations in Z-line proteins. Pros and cons of mouse models will be discussed and a future outlook will be given. J. Cell. Physiol. 232: 38–52, 2017.

Original languageEnglish
Pages (from-to)38-52
Number of pages15
JournalJournal of Cellular Physiology
Volume232
Issue number1
DOIs
Publication statusPublished - Jan 1 2017

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Cardiomyopathies
Animals
Animal Models
Mutation
Proteins
Restrictive Cardiomyopathy
Arrhythmogenic Right Ventricular Dysplasia
Multiprotein Complexes
Sarcomeres
Hypertrophic Cardiomyopathy
Dilated Cardiomyopathy
Cytoskeleton
Gene encoding
Transgenic Mice
Genes
Extracellular Matrix
Pathology
Maintenance
Phenotype
plasma protein Z

ASJC Scopus subject areas

  • Physiology
  • Medicine(all)
  • Clinical Biochemistry
  • Cell Biology

Cite this

Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins. / Bang, Marie Louise.

In: Journal of Cellular Physiology, Vol. 232, No. 1, 01.01.2017, p. 38-52.

Research output: Contribution to journalArticle

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