Linked Life Data

21502316

Source:http://linkedlifedata.com/resource/pubmed/id/21502316

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pubmed-article:21502316pubmed:abstractTextA novel double deletion in cardiac troponin T (cTnT) of two highly conserved amino acids (Asn-100 and Glu-101) was found in a restrictive cardiomyopathic (RCM) pediatric patient. Clinical evaluation revealed the presence of left atrial enlargement and marked left ventricle diastolic dysfunction. The explanted heart examined by electron microscopy revealed myofibrillar disarray and mild fibrosis. Pedigree analysis established that this mutation arose de novo. The patient tested negative for six other sarcomeric genes. The single and double recombinant cTnT mutants were generated, and their functional consequences were analyzed in porcine skinned cardiac muscle. In the adult Tn environment (cTnT3 + cardiac troponin I), the single cTnT3-?N100 and cTnT3-?E101 mutations had opposing effects on the Ca(2+) sensitivity of force development compared with WT, whereas the double deletion cTnT3-?N100/?E101 increased the Ca(2+) sensitivity + 0.19 pCa units. In addition, cTnT3-?N100/?E101 decreased the cooperativity of force development, suggesting alterations in intrafilament protein-protein interactions. In the fetal Tn environment, (cTnT1 + slow skeletal troponin I), the single (cTnT1-?N110) and double (cTnT1-?N110/?E111) deletions did not change the Ca(2+) sensitivity compared with control. To recreate the patient's heterozygous genotype, we performed a reconstituted ATPase activity assay. Thin filaments containing 50:50 cTnT3-?N100/?E101:cTnT3-WT also increased the myofilament Ca(2+) sensitivity compared with WT. Co-sedimentation of thin filament proteins indicated that no significant changes occurred in the binding of Tn containing the RCM cTnT mutation to actin-Tm. This report reveals the protective role of Tn fetal isoforms as they rescue the increased Ca(2+) sensitivity produced by a cTnT-RCM mutation and may account for the lack of lethality during gestation.lld:pubmed
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pubmed-article:21502316pubmed:year2011lld:pubmed
pubmed-article:21502316pubmed:articleTitleFetal cardiac troponin isoforms rescue the increased Ca2+ sensitivity produced by a novel double deletion in cardiac troponin T linked to restrictive cardiomyopathy: a clinical, genetic, and functional approach.lld:pubmed
pubmed-article:21502316pubmed:affiliationUniversity of Miami Miller School of Medicine, Miami, Florida 33136, USA.lld:pubmed
pubmed-article:21502316pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:21502316pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
pubmed-article:21502316pubmed:publicationTypeResearch Support, N.I.H., Extramurallld:pubmed
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