Mutational analysis of TTN,TCAP and TPM1 in cardiomyopathy |
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| Institution: | 1. Immunological Research, Universy of Cartagena, Cartagena, Colombia;2. Laboratorio GENES Ltda, Medellín, Colombia;3. Instituto de Biología, Universidad de Antioquia, Medellín, Colombia;4. Laboratorio de Genética Molecular, Cruz Roja Ecuatoriana, Quito, Ecuador;5. Universidad Pontificia Bolivariana, Medellín, Colombia;6. IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Portugal;1. Laboratorio de Genética Molecular de Cruz Vital – Cruz Roja Ecuatoriana Quito, Ecuador;2. Laboratorio GENES Ltda, Medellin, Colombia;1. Institute of Legal Medicine, Faculty of Medicine, University of Cologne, Cologne, Germany;2. IPATIMUP – Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal;3. Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, Santiago de Compostela, Spain;1. Flinders Centre for Nanoscale Science and Technology, Flinders University, Sturt Road, Bedford Park, Adelaide, South Australia, Australia;2. School of Biological Sciences, Flinders University, Sturt Road, Bedford Park, Adelaide, South Australia, Australia |
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| Abstract: | Resent molecular genetic study revealed that defects in sarcomeric genes causes cardiomyopathies. Comprehensive screening of 3 sarcomeric genes: TTN (titin), TCAP (telethonin) and TPM1 (alpha-tropomyosin) were performed in 35 consented autopsy cases diagnosed as cardiomyopathy. One nonsynonymous mutation p.Val9710Ile detected in TTN, which located on binding region to cardiac ankyrin repeat protein was found in one DCM case. It was suggested that the mutation might alter interaction of the Z-disc components and caused cardiomyopathy. A single nucleotide polymorphism p.Ala151= found in TCAP had significant differences in gene frequency between DCM and control cases. It is necessary to analyze the other sarcomeric genes and clarify the relationship with aetiology. |
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| Keywords: | Cardiomyopathy Sarcomeric gene Cardiac sudden death |
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