METHODS: An approximately 4 kb fragment of the TNNT2 gene was isolated from 103 DCM patients and 192 healthy controls and was analyzed by DNA sequence analysis for genetic variations. RESULTS: A total of 6 TNNT2 mutations were identified in 99 patients, including a G321T missense mutation (...
which is situated on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in TNNT2 gene are related with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. TNNT2 mutation takes part...
Similar to mutations inTNNI3, mutations in cTnT geneTNNT2also account for approximately 3–5% of genotyped families withHCM[2]. In humans, gene mutation Arg92Gln within the tropomyosin-binding domain of cTnT, is associated withleft ventricular hypertrophyand increased risk ofsudden cardiac death[...
Troponin T type 2 (cardiac), also known as TNNT2, is a protein which in humans is encoded by the TNNT2 gene.The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle ...
An extremely rare stop gained mutation, rs796925245 (g.1:201359630G>A, c.835C>T, p.Gln279Ter) in the troponin T2 (TNNT2) gene was identified as the disease-causing mutation. The stop gained mutation was predicted to result in a truncated troponin T protein in cardiac sarcomere. An ...
In this report, we therefore confirm the potential role of TNNT2 gene mutation in the genetic basis of familial EA with WPW.doi:10.1161/circ.150.suppl_1.4134619Montaser Atasi, MDRazan Dankar, MDSalim Barakat, MDJad Wehbi, MDMarwan Refaat, MD...
fragment of the TNNT2 gene was isolated from 103 DCM patients and 192 healthy controls and was analyzed by DNA sequence analysis for genetic variations.A total of 6 TNNT2 mutations were identified in 99 patients, including a G321T missense mutation (Leu84Phe) and 5 novel intronic mutations. ...
However, there are no reports of utilizing patient-derived induced pluripotent stem cells (iPSCs) carrying the TNNT2-R141W mutation, looking at functional improvement after gene replacement. Here, we describe the characteristics of TNNT2-R141W mutant iPSC-derived cardiomyocytes (iPSC-CMs) in ...
It is a genetically heterogeneous disorder associated with mutations in over 60 genes. We carried out whole exome sequencing in combination with cardiomyopathy-related gene-filtering on two affected family members to identify the possible causative mutation in a consanguineous Iranian family with DCM. ...
A comparative study of mutation screening of sarcomeric genes ( MYBPC3 , MYH7 , TNNT2 ) using single gene approach versus targeted gene panel next generation sequencing in a cohort of HCM patients in EgyptHEART diseasesGENETIC disordersGENETIC testing...