Author/Authors :
Güçlü-Geyik, Filiz Istanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey , Demir, Tevfik Istanbul Üniversitesi - Cerrahpaşa Tıp Fakültesi - Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Pediatrik Kardiyoloji Bilim Dalı, Turkey , Kömürcü-Bayrak, Evrim Istanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey , Bayrak, Fatih Acıbadem Üniversitesi - Kardiyoloji Anabilim Dalı, Turkey , Çoban, Neslihan Istanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey , Öztunç, Funda Istanbul Üniversitesi - Cerrahpaşa Tıp Fakültesi - Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Pediatrik Kardiyoloji Bilim Dalı, Turkey , Erginel-Ünaltuna, Nihan Istanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey
Abstract :
Objective: Mutations in the cardiac troponin T (TNNT2) gene are caused a group of clinically heterogeneous myocardial disease which leads to sudden cardiac death and heart failure. The aim of this study was to investigate TNNT2 gene mutations in patient with idiopathic dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) and establish genotype- phenotype correlation. Material and Methods : In our study, 23 idiopathic DCM and 50 HCM, total of 73 patients and 100 healthy control individuals were analysed for TNNT2 gene mutations.. Functionally important exons of TNNT2 gene; exon 10 and 13, were first screened by PCR-SSCP method for possible new mutations and then different patterns were examined by Sanger sequencing. Moreover, R141W and AK210 mutations in TNNT2 gene are analysed by PCR-RFLP method in DCM patients. Results: In this study, no mutation associated with DCM and HCM detected in two exons of TNNT2. The rs45527945G C polymorphism in exon 10 of TNNT2 was observed in three DCM patients, one HCM patient and two healthy individuals. Minor aUele frequency of this polymorphism was 0.01 in control group (healthy individuals), 0.07 in DCM, and 0.01 in HCM patients. The genotype and allele frequencies of this polymorphism were significantly different between DCM patients and healthy individuals (genotype and allele frequencies; p = 0.015 and p = 0.046). There were no statistically significant differences between the phenotype of patients and the genotype of this polymorphism. Conclusion: We thought that screening all exons of TNNT2 gene in larger case-control series will be important for unravelling the molecular pathophysiology of DCM and HCM.
NaturalLanguageKeyword :
Cardiac troponin T , Dilated Cardiomyopathy , hypertrophic cardiomyopathy , mutations screening
