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Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains

Pflügers Archiv, 2019-05, Vol.471 (5), p.683-699 [Peer Reviewed Journal]

Springer-Verlag GmbH Germany, part of Springer Nature 2019 ;Pflügers Archiv - European Journal of Physiology is a copyright of Springer, (2019). All Rights Reserved. ;ISSN: 0031-6768 ;EISSN: 1432-2013 ;DOI: 10.1007/s00424-019-02257-4 ;PMID: 30706179

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Title:
Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains
Author: Yadav, Sunil ; Sitbon, Yoel H. ; Kazmierczak, Katarzyna ; Szczesna-Cordary, Danuta
Subjects: Animal models ; Animals ; Biomechanics ; Biomedical and Life Sciences ; Biomedicine ; Cardiac muscle ; Cardiomyopathy ; Cardiomyopathy, Dilated - etiology ; Cardiomyopathy, Dilated - genetics ; Cardiomyopathy, Dilated - pathology ; Cardiomyopathy, Hypertrophic - etiology ; Cardiomyopathy, Hypertrophic - genetics ; Cardiomyopathy, Hypertrophic - pathology ; Cardiomyopathy, Restrictive - etiology ; Cardiomyopathy, Restrictive - genetics ; Cardiomyopathy, Restrictive - pathology ; Cell Biology ; Congestive heart failure ; Coronary artery disease ; Disease Models, Animal ; EF-hand ; EF-hand protein ; Etiology ; Hand protein ; Human Physiology ; Humans ; Invited Review ; Light chains ; Molecular Medicine ; Morbidity ; Muscle contraction ; Mutation ; Myosin ; Myosin Light Chains - genetics ; N-Terminus ; Neurosciences ; Phosphorylation ; Receptors ; Ventricle
Is Part Of: Pflügers Archiv, 2019-05, Vol.471 (5), p.683-699
Description: Genetic cardiomyopathies, a group of cardiovascular disorders based on ventricular morphology and function, are among the leading causes of morbidity and mortality worldwide. Such genetically driven forms of hypertrophic (HCM), dilated (DCM), and restrictive (RCM) cardiomyopathies are chronic, debilitating diseases that result from biomechanical defects in cardiac muscle contraction and frequently progress to heart failure (HF). Locus and allelic heterogeneity, as well as clinical variability combined with genetic and phenotypic overlap between different cardiomyopathies, have challenged proper clinical prognosis and provided an incentive for identification of pathogenic variants. This review attempts to provide an overview of inherited cardiomyopathies with a focus on their genetic etiology in myosin regulatory (RLC) and essential (ELC) light chains, which are EF-hand protein family members with important structural and regulatory roles. From the clinical discovery of cardiomyopathy-linked light chain mutations in patients to an array of exploratory studies in animals, and reconstituted and recombinant systems, we have summarized the current state of knowledge on light chain mutations and how they induce physiological disease states via biochemical and biomechanical alterations at the molecular, tissue, and organ levels. Cardiac myosin RLC phosphorylation and the N-terminus ELC have been discussed as two important emerging modalities with important implications in the regulation of myosin motor function, and thus cardiac performance. A comprehensive understanding of such triggers is absolutely necessary for the development of target-specific rescue strategies to ameliorate or reverse the effects of myosin light chain-related inherited cardiomyopathies.
Publisher: Berlin/Heidelberg: Springer Berlin Heidelberg
Language: English
Identifier: ISSN: 0031-6768
EISSN: 1432-2013
DOI: 10.1007/s00424-019-02257-4
PMID: 30706179
Source: MEDLINE
ProQuest Central

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Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains

Springer-Verlag GmbH Germany, part of Springer Nature 2019 ;Pflügers Archiv - European Journal of Physiology is a copyright of Springer, (2019). All Rights Reserved. ;ISSN: 0031-6768 ;EISSN: 1432-2013 ;DOI: 10.1007/s00424-019-02257-4 ;PMID: 30706179

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