Targeting lipid metabolism as a new therapeutic strategy for inherited cardiomyopathies.

Autor:	Gaar-Humphreys KR; Division Heart and Lungs, Department of Cardiology, Circulatory Health Research Center, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht, Netherlands., van den Brink A; Division Heart and Lungs, Department of Cardiology, Circulatory Health Research Center, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht, Netherlands., Wekking M; Division Heart and Lungs, Department of Cardiology, Circulatory Health Research Center, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht, Netherlands., Asselbergs FW; Department of Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.; Health Data Research United Kingdom and Institute of Health Informatics, University College London, London, United Kingdom., van Steenbeek FG; Division Heart and Lungs, Department of Cardiology, Circulatory Health Research Center, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht, Netherlands.; Department of Clinical Sciences, Faculty of Veterinary Medicine, Utrecht University, Utrecht, Netherlands., Harakalova M; Division Heart and Lungs, Department of Cardiology, Circulatory Health Research Center, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht, Netherlands.; Netherlands Heart Institute, Utrecht, Netherlands., Pei J; Division Heart and Lungs, Department of Cardiology, Circulatory Health Research Center, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht, Netherlands.; Netherlands Heart Institute, Utrecht, Netherlands.
Jazyk:	angličtina
Zdroj:	Frontiers in cardiovascular medicine [Front Cardiovasc Med] 2023 Jan 19; Vol. 10, pp. 1114459. Date of Electronic Publication: 2023 Jan 19 (Print Publication: 2023).
DOI:	10.3389/fcvm.2023.1114459
Abstrakt:	Inherited cardiomyopathies caused by pathological genetic variants include multiple subtypes of heart disease. Advances in next-generation sequencing (NGS) techniques have allowed for the identification of numerous genetic variants as pathological variants. However, the disease penetrance varies among mutated genes. Some can be associated with more than one disease subtype, leading to a complex genotype-phenotype relationship in inherited cardiomyopathies. Previous studies have demonstrated disrupted metabolism in inherited cardiomyopathies and the importance of metabolic adaptations in disease onset and progression. In addition, genotype- and phenotype-specific metabolic alterations, especially in lipid metabolism, have been revealed. In this mini-review, we describe the metabolic changes that are associated with dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM), which account for the largest proportion of inherited cardiomyopathies. We also summarize the affected expression of genes involved in fatty acid oxidation (FAO) in DCM and HCM, highlighting the potential of PPARA-targeting drugs as FAO modulators in treating patients with inherited cardiomyopathies. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2023 Gaar-Humphreys, van den Brink, Wekking, Asselbergs, van Steenbeek, Harakalova and Pei.)
Databáze:	MEDLINE
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