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Review
. 2022 Feb 1;322(2):H181-H233.
doi: 10.1152/ajpheart.00562.2021. Epub 2021 Nov 19.

Understanding the molecular basis of cardiomyopathy

Marie-Louise Bang  1   2 , Julius Bogomolovas  3 , Ju Chen  3
Affiliations
Review

Understanding the molecular basis of cardiomyopathy

Marie-Louise Bang et al. Am J Physiol Heart Circ Physiol. .

Abstract

Inherited cardiomyopathies are a major cause of mortality and morbidity worldwide and can be caused by mutations in a wide range of proteins located in different cellular compartments. The present review is based on Dr. Ju Chen's 2021 Robert M. Berne Distinguished Lectureship of the American Physiological Society Cardiovascular Section, in which he provided an overview of the current knowledge on the cardiomyopathy-associated proteins that have been studied in his laboratory. The review provides a general summary of the proteins in different compartments of cardiomyocytes associated with cardiomyopathies, with specific focus on the proteins that have been studied in Dr. Chen's laboratory.

Keywords: cardiomyopathy; genetics; murine models; protein mutations; translational research.

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Conflict of interest statement

No conflicts of interest, financial or otherwise, are declared by the authors.

Figures

Figure 1.
Figure 1.
Schematic representation of cardiomyocyte structure, including key proteins associated with human cardiomyopathy. Cardiomyopathy-associated proteins studied in Dr. Ju Chen’s laboratory (listed in Table 1) are located in different compartments of the cardiomyocyte, including the sarcomere, intercalated disk (ICD), sarcoplasmic reticulum (SR), costamere, nucleus, and cytosol. ALP, actinin-associated lim protein; BAG3, BCL2-associated athanogene 3; CAR, coxsackievirus and adenovirus receptor; CARP, cardiac ankyrin repeat; CASQ2, calsequestrin 2; ECM, extracellular matrix; eEF1A2, eukaryotic elongation factor 1 alpha 2; ENH, Enigma homolog protein; ER, endoplasmic reticulum; FAK, focal adhesion kinase; ILK, integrin linked kinase; FHLs, four and a half LIM proteins; ILK, integrin-linked kinase; JPH2, junctophilin 2; LAP1/2, lamina-associated polypeptide 1 and 2; LBR, lamin B receptor; LEMD2, LEM domain nuclear envelope protein 2; LIMP-2, lysosomal integral membrane protein-2; LTCC, L-type calcium channel; MLP, muscle LIM protein; MYL2/3, myosin light chain 2/3; MYBP-C, myosin binding protein-C; NCX, sodium/calcium exchanger; PLN, phosholamban; PRDM16, PR/SET domain 16; RyR2, ryanodine receptor 2; SERCA, SR calcium ATPase; SUN1/2, Sad1 and UNC84 domain-containing 1 and 2; TBX20, T-box transcription factor 20; T-cap, titin cap; XIRP, xin actin-binding repeat containing; ZO-1, zonula occludens-1.
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