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Intermediate filaments in cardiomyopathy

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Abstract

Intermediate filament (IF) proteins are critical regulators in health and disease. The discovery of hundreds of mutations in IF genes and posttranslational modifications has been linked to a plethora of human diseases, including, among others, cardiomyopathies, muscular dystrophies, progeria, blistering diseases of the epidermis, and neurodegenerative diseases. The major IF proteins that have been linked to cardiomyopathies and heart failure are the muscle-specific cytoskeletal IF protein desmin and the nuclear IF protein lamin, as a subgroup of the known desminopathies and laminopathies, respectively. The studies so far, both with healthy and diseased heart, have demonstrated the importance of these IF protein networks in intracellular and intercellular integration of structure and function, mechanotransduction and gene activation, cardiomyocyte differentiation and survival, mitochondrial homeostasis, and regulation of metabolism. The high coordination of all these processes is obviously of great importance for the maintenance of proper, life-lasting, and continuous contraction of this highly organized cardiac striated muscle and consequently a healthy heart. In this review, we will cover most known information on the role of IFs in the above processes and how their deficiency or disruption leads to cardiomyopathy and heart failure.

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Abbreviations

IF:

Intermediate filament

ID:

Intercalated disc

ER:

Endoplasmic reticulum

SR:

Sarcoplasmic reticulum

ECM:

Extracellular matrix

ESC:

Embryonic stem cell

CPC:

Cardiac progenitor cell

CM:

Cardiomyopathy

DCM:

Dilated cardiomyopathy

HCM:

Hypertrophic cardiomyopathy

RCM:

Restrictive cardiomyopathy

ARVD/C:

Arrhythmogenic right ventricular dysplasia/cardiomyopathy

HF:

Heart failure

DRM:

Desmin-related myopathy

LMNA:

Lamin A

αB-crystallin:

alpha Beta crystallin

αBCry:

alpha Beta crystallin

CryAB:

gene: crystallin, alpha Beta

R120GCryAB:

mutation R120G in CryAB

OPN:

Osteopontin

EMT:

Epithelial-to-mesenchymal transition

EndoMT:

Endothelial-to-mesenchymal transition

PTM:

Posttranslational modification

Des −/− :

Desmin knockout

MAM:

Mitochondria-associated ER/SR membranes

OM:

Outer mitochondrial membrane

IMS:

Inner mitochondrial space

IMM:

Inner mitochondrial membrane

ANT:

Adenine nucleotide translocator

CK:

Creatine kinase

DG:

Dystroglycan

PLB:

Phospholamban

RyR:

Ryanodine receptor

serca:

Sarcoplasmic reticulum calcium ATPase

SG:

Sarcoglycan

VDAC:

Voltage-dependent anion channel

MICOS:

mitochondrial contact site and cristae organizing system

LINC:

linker of the nucleoskeleton and the cytoskeleton

CMYA5:

Cardiomyopathy-associated protein 5

AKAP:

A-kinase anchor protein

shsp:

Small heat shock protein

TRIM:

Tripartite motif-containing protein

Bcl-2:

B-cell lymphoma 2

EC coupling:

Excitation-contraction coupling

CCD:

Conduction system disease

MAPK:

mitogen-activated protein kinase

ERK1/2:

extracellular signal-regulated kinase 1/2

JNK:

Jun N-terminal kinase

a.a.:

Amino acids

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Funding

Author’s work described in this review was supported by COST BM1002 as well as PENED 01ED371, EPAN YB-22, and PEP ATT-39 and ESPA SYN 965, grant of Excellence II/ARISTEIA II 5342 grants from the Greek Secretariat for R&D and NIH-AR39617 grants to Y.C.

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  1. Center of Basic Research, Biomedical Research Foundation, Academy of Athens, 4 Soranou Ephesiou, 11527, Athens, Greece

    Mary Tsikitis, Zoi Galata, Manolis Mavroidis, Stelios Psarras & Yassemi Capetanaki

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  1. Mary Tsikitis
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  2. Zoi Galata
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Correspondence to Yassemi Capetanaki.

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Mary Tsikitis declares that she has no conflicts of interest. Zoi Galata declares that she has no conflicts of interest. Manolis Mavroidis declares that he has no conflicts of interest. Stelios Psarras declares that he has no conflicts of interest. Yassemi Capetanaki declares that she has no conflicts of interest.

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This article is part of a Special Issue on ‘Heart Failure Due to Non-Myofibrillar Defects’ edited by Elisabeth Ehler and Katja Gehmlich.

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Tsikitis, M., Galata, Z., Mavroidis, M. et al. Intermediate filaments in cardiomyopathy. Biophys Rev 10, 1007–1031 (2018). https://doi.org/10.1007/s12551-018-0443-2

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