Key result
Two novel TNNI3 missense mutations (Lys36Gln and Asn185Lys) were identified in 5 carriers with severe familial dilated cardiomyopathy, leading to lower maximum ATPase rates and reduced Ca2+ sensitivity.
Population
96 probands with dilated cardiomyopathy (DCM)
Comparison
TNNI3 gene screening and functional… vs Normal controls and wild type troponin
Design
Preclinical
Authors
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Alerts clinicians to TNNI3 screening in severe familial DCM; extends animal mechanistic data but leaves human translation open.
Observational (n=96)
TNNI3 mutations can cause severe, early-onset autosomal dominant dilated cardiomyopathy by reducing myofilament Ca2+ sensitivity.
Carballo et al. (2009) conducted an observational in Dilated Cardiomyopathy (n=96). TNNI3 missense mutations (Lys36Gln and Asn185Lys) vs. Wild type was evaluated on Identification of TNNI3 mutations and functional alterations in Ca(2+) regulation. Two novel TNNI3 missense mutations (Lys36Gln and Asn185Lys) were identified in 5 carriers with severe familial dilated cardiomyopathy, leading to lower maximum ATPase rates and reduced Ca2+ sensitivity.
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