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Actin-associated proteins and cardiomyopathy-the 'unknown' beyond troponin and tropomyosin
1Randall Centre for Cell and Molecular Biophysics (School of Basic and Medical Biosciences), London, UK. elisabeth.ehler@kcl.ac.uk.
Insights
Mutations in proteins regulating heart muscle contraction, like troponin, cause hypertrophic cardiomyopathy. Emerging research shows other actin-binding proteins also contribute to heart disease development.
Area of Science:
- Cardiology
- Molecular Biology
- Genetics
Background:
- Hereditary hypertrophic cardiomyopathy is linked to mutations in proteins controlling actomyosin interactions (e.g., troponin complex, tropomyosin, MYBP-C).
- Recent studies indicate that actin-binding proteins not directly involved in contraction regulation may also play a role in heart disease.
Purpose of the Study:
- To review actin-associated proteins beyond the troponin/tropomyosin complex.
- To explore the roles of these proteins in cardiomyocytes.
- To discuss their recent association with hereditary cardiomyopathies.
Main Methods:
- Literature review of genetic and molecular studies.
- Analysis of protein expression, localization, and mutation data.
- Synthesis of findings on actin-binding proteins and heart disease.
Main Results:
- Identified various actin-associated proteins implicated in heart function.
- Highlighted changes in expression, localization, and mutations of these proteins.
- Established potential links between these proteins and cardiomyopathies.
Conclusions:
- Actin-binding proteins, beyond those directly regulating contraction, are crucial in cardiomyocyte function.
- Alterations in these proteins represent a growing area of research for hereditary cardiomyopathies.
- Further investigation into these proteins may reveal new therapeutic targets for heart disease.
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.