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Cardiac troponin T (TNNT2) mutations in chinese dilated cardiomyopathy patients

Xiaoping Li1, Rong Luo2, Haiyong Gu3

  • 1Cardiac Arrhythmia Center, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100037, China ; Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan 610072, China.

Biomed Research International
|August 12, 2014
PubMed
Abstract

Insights

Genetic variations in the TNNT2 gene, including a missense mutation (Leu84Phe) and two novel SNPs, are associated with dilated cardiomyopathy (DCM) in Chinese patients. These findings highlight TNNT2 as a potential genetic factor in DCM development.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Epidemiology

Background:

  • Dilated cardiomyopathy (DCM) is a primary cause of heart failure with significant morbidity and mortality.
  • Over 40 genes are linked to DCM, yet the clinical utility of genetic testing remains unclear.
  • Mutations in the troponin T (TNNT2) gene are a known cause of DCM.

Purpose of the Study:

  • To investigate genetic variations within the TNNT2 gene.
  • To determine the association of these TNNT2 variations with DCM in a Chinese patient cohort.

Main Methods:

  • DNA sequencing of a 4 kb fragment of the TNNT2 gene.
  • Analysis of 103 DCM patients and 192 healthy controls.
  • Identification and statistical correlation of genetic variations with DCM.

Main Results:

  • Six TNNT2 mutations were found in 99 patients, including Leu84Phe missense mutation and 5 novel intronic mutations.
  • Two novel single nucleotide polymorphisms (SNPs), c.192 + 353 C>A and c.192 + 463 G>A, showed significant correlation with DCM.
  • SNP rs3729843 was also significantly correlated with DCM.

Conclusions:

  • The TNNT2 missense mutation (Leu84Phe) may be associated with DCM in the Chinese population.
  • Two novel SNPs (c.192 + 353 C>A, c.192 + 463 G>A) in TNNT2 are potentially linked to DCM in this cohort.
  • TNNT2 gene variations warrant further investigation for their role in DCM pathogenesis.

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