Provider: Moravian Museum, Brno, Czech Republic

TY  - JOUR
JO  - Anthropologie (Brno)
TI  - Phenotype Aspects of Δ160 of TNNT2 Gene in Czech Patients with Hypertrophic Cardiomyopathy
AU  - Čapek P
AU  - Škvor J
AU  - Mazurová F
Y1  - 2006
VL  - 44
IS  - 2
PB  - Moravian Museum, Brno, Czech Republic
SN  - 0323-1119
SP  - 209
EP  - 211
KW  - Hypertrophic cardiomyopathy
KW  - Familial hypertrophic cardiomyopathy
KW  - Troponin T
KW  - TNNT2
KW  - Mutation
N2  - 
N2  - 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.
ER  -