Key result
R403Q-MyHC but not R92W-TnT mutants exhibit an energy-deficient cardiac phenotype reflecting allele-specific metabolic remodeling.
Why the study?
It is unknown whether all sarcomeric protein gene mutations in hypertrophic cardiomyopathy cause similar derangements of cardiac energy metabolism.
Do different sarcomeric protein gene mutations in hypertrophic cardiomyopathy lead to allele-specific metabolic pathway remodeling?
Population
14-16 weeks old mouse hearts with R403Q-MyHC or R92W-TnT mutations
Comparison
R403Q-MyHC vs R92W-TnT perfused mutant hearts
Design
Preclinical ex vivo Langendorff-perfused heart study
Authors
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Hypothesis-generating for mutation-specific metabolic therapies in HCM; leaves open translation beyond these mouse models.
Do different sarcomeric protein gene mutations in hypertrophic cardiomyopathy lead to allele-specific metabolic pathway remodeling?
Different hypertrophic cardiomyopathy mutations lead to allele-specific remodeling of cardiac energy metabolism, suggesting that metabolic therapies may need to be tailored to specific mutations.
Ragavan et al. (2026) studied Hypertrophic cardiomyopathy. R403Q-MyHC and R92W-TnT mutations was evaluated on Cardiac metabolic flux. R403Q-MyHC mutants, but not R92W-TnT mutants, exhibited an energy-deficient cardiac phenotype, reflecting allele-specific remodeling of cardiac energy metabolism.
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