Article
Integrating Clinical Phenotype With Multiomics Analyses of Human Cardiac Tissue Unveils Divergent Metabolic Remodeling in Genotype-Positive and Genotype-Negative Patients With Hypertrophic Cardiomyopathy.
Circulation. Genomic and precision medicine - 1 Jun 2024
Nollet Edgar E, Schuldt Maike, Sequeira Vasco, Binek Aleksandra, Pham Thang V, Schoonvelde Stephan A C, Jansen Mark, Schomakers Bauke V, van Weeghel Michel, Vaz Fred M, Houtkooper Riekelt H, Van Eyk Jennifer E, Jimenez Connie R, Michels Michelle, Bedi Kenneth C, Margulies Kenneth B, Dos Remedios Cristobal G, Kuster Diederik W D, van der Velden Jolanda
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is caused by sarcomere gene mutations (genotype-positive HCM) in ≈50% of patients and occurs in the absence of mutations (genotype-negative HCM) in the other half of patients. We explored how alterations in the metabolomic and lipidomic landscape are involved in cardiac remodeling in both patient groups. METHODS: We performed proteomics, metabolomics, and lipidomics...
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