Gaar-Humphreys, KR;
van den Brink, A;
Wekking, M;
Asselbergs, FW;
van Steenbeek, FG;
Harakalova, M;
Pei, J;
(2023)
Targeting lipid metabolism as a new therapeutic strategy for inherited cardiomyopathies.
Frontiers in Cardiovascular Medicine
, 10
, Article 1114459. 10.3389/fcvm.2023.1114459.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Targeting lipid metabolism as a new therapeutic strategy for inherited cardiomyopathies |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3389/fcvm.2023.1114459 |
| Publisher version: | https://doi.org/10.3389/fcvm.2023.1114459 |
| Language: | English |
| Additional information: | Copyright © 2023 Gaar-Humphreys, van den Brink, Wekking, Asselbergs, van Steenbeek, Harakalova and Pei. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
| Keywords: | hypertrophic cardiomyopathy, dilated cardiomyopathy, genetic variants, lipid metabolism, fatty acid oxidation, transcription factor PPARA |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Health Informatics UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Health Informatics > Clinical Epidemiology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10165462 |
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