Key result
Mutations in cardiac troponin T (R92Q and cTnT(DEL)) increased tension cost by 35% and 29% respectively at short sarcomere lengths (P<0.001), indicating inefficient ATP use at the myofilament level.
Population
Detergent-skinned cardiac fibre bundles from transgenic mice expressing wild type cTnT, R92Q mutant cTnT, or…
Comparison
Expression of familial hypertrophic… vs Expression of wild type (WT) cTnT
Design
Preclinical
Authors
Loading...
May underlie energetic impairment in FHC; leaves open clinical translation from animal models.
FHC-associated cTnT mutations lead to inefficient use of ATP at the myofilament level, with the extent of dysfunction depending on the mutation type and mutant protein concentration.
Montgomery et al. (2001) studied Familial hypertrophic cardiomyopathy. R92Q and cTnT(DEL) mutations in cardiac troponin T vs. Wild type (WT) cTnT was evaluated on Steady-state isometric force and ATPase activity. Mutations in cardiac troponin T (R92Q and cTnT(DEL)) increased tension cost by 35% and 29% respectively at short sarcomere lengths (P<0.001), indicating inefficient ATP use at the myofilament level.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: