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'Čapek P, Škvor J, Mazurová F, 2006: Phenotype Aspects of Δ160 of TNNT2 Gene in Czech Patients with Hypertrophic Cardiomyopathy. Anthropologie (Brno) 44, 2: 209-211'. |
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| Abstract | | Hypertrophic cardiomyopathy is indicated by left and/or right ventricular hypertrophy, which is typically asymmetric and involves the interventricular septum. Ordinarily, the volume of the left ventricular is normal or reduced, while systolic gradients are common. As a complex cardiac disease, familial hypertrophic cardiomyopathy (FHC) has unique pathophysiological characteristics and multifarious morphological, functional, and clinical features. Troponin T is a regulatory protein found in striated muscles that forms a complex with troponin I (TnI) and troponin C (TnC) that, along with tropomyosin (TM), must be present for Ca2+-dependent regulation of muscle contraction. Exons 9 and 11 of TNNT2 gene, which are known to contain mutations associated with FHC, were analyzed by the polymerase chain reaction (PCR) and subsequently by DNA sequencing analyses, which were cross-sequenced. The DGlu160 mutation was observed in patients with severe form of hypertrophic cardiomyopathy. | | | | Keywords | | Hypertrophic cardiomyopathy - Familial hypertrophic cardiomyopathy - Troponin T - TNNT2 - Mutation | | |
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