TNNI3Troponin I, Cardiac
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It is well documented that RCM1, RCM3, RCM4, and RCM5 are caused by mutations which lead to isoform of troponin I ( TNNI3 ), troponin T, myopalladin, and filamin-C, respectively.[3],[4],[5],[6] RCM2 mapped on mutations in the gene coding region of chromosome 10q23.3.[7] Besides these identified sites, RCM is suspected of having other pathogeneses as some RCM patients have no mutations among these identified gene locations.
PCR primers for TNNI3 used in this study were 5'-ATAAGAAGAGAAGGAAGGA GAC-3' and 5'-TCAATAACACAGCCAAGAGT-3', producing a PCR product with the length of 608 bp.
For patients with TNNI3 -192 site mutation, oral administration of catechin was prescribed according to Zhang L et al.
Of note, all the five TNNI3 mutations were de novo germline mutation, clarifying that their parents are healthy.{Figure 2}
In this study, WES was performed and the results showed variants of TNNI3 in the patients.
Did the authors exclude mutations in nDNA-located genes which have been shown to cause dCMP, such as MYH7 , MYBPC3 , LMNA , TNNI3 , TNNT2 , ACTC1 , TPM1 , SCN5A , MYL2 , MYH6 , MYL3 , PLEKHM2 , HAND1 , RBM20 , FBXO32 , DES , YBPC3 , MYPN , and PRKAG2 ?[sup][2] Arguments against the m.8701A>G variant as being causative are that the variant has not been reported as pathogenic, was homoplasmic, that no biochemical defect was demonstrated neither in skeletal muscle nor in skin fibroblasts, that the heteroplasmy rate was not tested in tissues other than lymphocytes, that a maternal trait is not the only possible transmission, that no other organs except the myocardium were affected, and that the variant occurred also in a subject of the control group.
Recently, mutations in other genes, such those that encode for the myosin essential and regulatory light chains, cardiac troponin I (TNNI3), and titin, have been identified in some HC patients (17-19).