Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2018 Aug;10(4):1121-1128.
doi: 10.1007/s12551-018-0428-1. Epub 2018 Jun 5.

Actin-associated proteins and cardiomyopathy-the 'unknown' beyond troponin and tropomyosin

Elisabeth Ehler  1   2
Affiliations
Review

Actin-associated proteins and cardiomyopathy-the 'unknown' beyond troponin and tropomyosin

Elisabeth Ehler. Biophys Rev. 2018 Aug.

Abstract

It has been known for several decades that mutations in genes that encode for proteins involved in the control of actomyosin interactions such as the troponin complex, tropomyosin and MYBP-C and thus regulate contraction can lead to hereditary hypertrophic cardiomyopathy. In recent years, it has become apparent that actin-binding proteins not directly involved in the regulation of contraction also can exhibit changed expression levels, show altered subcellular localisation or bear mutations that might lead to hereditary cardiomyopathies. The aim of this review is to look beyond the troponin/tropomyosin mechanism and to give an overview of the different types of actin-associated proteins and their potential roles in cardiomyocytes. It will then discuss recent findings relevant to their involvement in heart disease.

Keywords: Actin-binding proteins; Cardiomyopathy; Cytoskeleton; Formin; Intercalated disc.

PubMed Disclaimer

Conflict of interest statement

Elisabeth Ehler declares that she has no conflict of interest.

This article does not contain any studies with human participants or animals performed by the author.

Figures

Fig. 1
Fig. 1
Overview of actin-binding proteins and their effect on actin. Actin-binding proteins can enhance the formation of filaments from G-actin monomers, can stabilise and crosslink these filaments and can also disassemble them. The end of the filaments are termed barbed (plus end) and pointed (minus end) and dissociation of G-actin is prevented by different capping proteins. Disassembly of actin filaments is favoured by members of the gelsolin family. Gene names are given below the roles; names in bold are highly expressed in cardiomyocytes. An asterisk after the name indicates that these genes were shown to bear mutations that can cause hereditary cardiomyopathy
Fig. 2
Fig. 2
Overview of the different types of actin filaments and subcellular localisation of different actin-associated proteins in a cardiomyocyte. Only one corner of the cell is shown. The legend below shows the different types of complexes, which are mostly represented in a very simplified fashion. Chevrons indicate the orientation of the actin filaments
See this image and copyright information in PMC

References

    1. Ajima R, Bisson JA, Helt JC, Nakaya MA, Habas R, Tessarollo L, He X, Morrisey EE, Yamaguchi TP, Cohen ED. DAAM1 and DAAM2 are co-required for myocardial maturation and sarcomere assembly. Dev Biol. 2015;408:126–139. doi: 10.1016/j.ydbio.2015.10.003. - DOI - PMC - PubMed
    1. Al Haj A, Mazur AJ, Radaszkiewicz K, Radaszkiewicz T, Makowiecka A, Stopschinski BE, Schonichen A, Geyer M, Mannherz HG. Distribution of formins in cardiac muscle: FHOD1 is a component of intercalated discs and costameres. Eur J Cell Biol. 2015;94:101–113. doi: 10.1016/j.ejcb.2014.11.003. - DOI - PubMed
    1. Arimura T, Takeya R, Ishikawa T, Yamano T, Matsuo A, Tatsumi T, Nomura T, Sumimoto H, Kimura A. Dilated cardiomyopathy-associated FHOD3 variant impairs the ability to induce activation of transcription factor serum response factor. Circ J. 2013;77:2990–2996. doi: 10.1253/circj.CJ-13-0255. - DOI - PubMed
    1. Banerjee I, Zhang J, Moore-Morris T, Lange S, Shen T, Dalton ND, Gu Y, Peterson KL, Evans SM, Chen J. Thymosin beta 4 is dispensable for murine cardiac development and function. Circ Res. 2012;110:456–464. doi: 10.1161/CIRCRESAHA.111.258616. - DOI - PMC - PubMed
    1. Bao B, Zhang L, Hu H, Yin S, Liang Z. Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report. BMC Med Genet. 2012;13:63. doi: 10.1186/1471-2350-13-63. - DOI - PMC - PubMed

LinkOut - more resources