Key result
Mutations causing a decrease in the disorder score in TnI and TnT are significantly more abundant in hypertrophic and dilated cardiomyopathies than mutations leading to an increase in the score.
Population
Cardiac troponin subunits and their mutations associated with inherited cardiomyopathies
Authors
Loading...
Does not alter clinical management; leaves open mechanistic roles for troponin disorder in cardiomyopathy pathogenesis.
Disease-causing mutations in troponins that decrease local flexibility may trigger functional changes in the heart leading to cardiomyopathies.
Na et al. (2016) studied Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Mutations causing decrease in the disorder score in TnI and TnT vs. Mutations leading to the increase in the disorder score was evaluated on Abundance in HCM and DCM. Mutations causing a decrease in the disorder score in TnI and TnT are significantly more abundant in hypertrophic and dilated cardiomyopathies than mutations leading to an increase in the score.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: