Key result
A de novo deletion mutation of glutamic acid 96 in cardiac troponin T caused a large leftward shift in Ca2+ sensitivity and impaired ATPase inhibition, contributing to severe diastolic dysfunction.
The first cardiac troponin T mutation linked to infantile restrictive cardiomyopathy causes severe diastolic dysfunction by increasing Ca2+ sensitivity and impairing the inhibitory properties of troponin.
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May underlie infantile restrictive cardiomyopathy; leaves open whether Ca2+ desensitization improves diastolic function in patients.
Pinto et al. (2007) studied Infantile Restrictive Cardiomyopathy (RCM). Cardiac troponin T (CTnT) mutation (de novo deletion of glutamic acid 96) was evaluated on Ca(2+) sensitivity of force development and actomyosin ATPase activation. A de novo deletion mutation of glutamic acid 96 in cardiac troponin T caused a large leftward shift in Ca2+ sensitivity and impaired ATPase inhibition, contributing to severe diastolic dysfunction.
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