TY - JOUR
T1 - Targeting lipid metabolism as a new therapeutic strategy for inherited cardiomyopathies
AU - Gaar-Humphreys, Karen R
AU - van den Brink, Alyssa
AU - Wekking, Mark
AU - Asselbergs, Folkert W
AU - van Steenbeek, Frank G
AU - Harakalova, Magdalena
AU - Pei, Jiayi
N1 - Funding Information:
This work was supported by the Leducq grant (CURE-PLaN no. 18CVD01 to JP, MH, and FWA), ZonMW Open Competition grant (CONTRACT no. 09120012010018 to KG-H, FWA, and MH), Dutch Cardiovascular Alliance (DCVA) grant (DOUBLE-DOSE no. 2020B005 to MH, FvS, and FWA), and ERA-CVD grant (SCALE no. 2019T109 to JP, FvS, and MH). FWA is supported by UCL Hospitals NIHR Biomedical Research Centre.
Publisher Copyright:
Copyright © 2023 Gaar-Humphreys, van den Brink, Wekking, Asselbergs, van Steenbeek, Harakalova and Pei.
PY - 2023/1/19
Y1 - 2023/1/19
N2 - 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.
AB - 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.
KW - hypertrophic cardiomyopathy
KW - dilated cardiomyopathy
KW - genetic variants
KW - lipid metabolism
KW - fatty acid oxidation
KW - transcription factor PPARA
UR - http://www.scopus.com/inward/record.url?scp=85147674296&partnerID=8YFLogxK
U2 - 10.3389/fcvm.2023.1114459
DO - 10.3389/fcvm.2023.1114459
M3 - Review article
C2 - 36760574
SN - 2297-055X
VL - 10
JO - Frontiers in Cardiovascular Medicine
JF - Frontiers in Cardiovascular Medicine
M1 - 1114459
ER -