Key result
R403Q-MyHC mutants, but not R92W-TnT mutants, exhibited an energy-deficient cardiac phenotype, reflecting allele-specific remodeling of cardiac energy metabolism.
Why the study?
Do different sarcomeric protein gene mutations in hypertrophic cardiomyopathy lead to allele-specific metabolic pathway remodeling?
Population
Mouse models of hypertrophic cardiomyopathy (R403Q-MyHC and R92W-TnT mutants), 14-16 weeks old
Comparison
Langendorff-perfusion with a triple tracer… vs Comparison between R403Q-MyHC and R92W-TnT…
Design
Preclinical
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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