• Study of Polymorphisms in Exon 2 of LMNA gene associated with Dilated Cardiomyopathy
  • Afarin Abbassi,1 Nastaran Asghari-Moghaddam,2,* Ardeshir Hesampour,3
    1. Master Student of Genetics, Department of Biology, Central Tehran Branch, Islamic Azad University, Tehran, I. R. Iran.
    2. Assistant Professor of Genetics, Department of Biology, Central Tehran Branch, Islamic Azad University, Tehran, I. R. Iran.
    3. Assistant Professor of Genetics, Department of Biology, Central Tehran Branch, Islamic Azad University, Tehran, I. R. Iran and NIGEB


  • Introduction: DCM is characterized by dilated ventricular cavity, decreased myocardial contractility, and systolic and diastolic dysfunction. DCM is one of the main causes of heart transplantation. LMNA is responsible for encoding laminas A and C which are nuclear intermediate lamina. The LMNA gene contains 12 exons and is located on 1q22. Several studies have proposed that the disruption of lamin A/C may debilitate tissues such as the cardiac and skeletal muscles. Many researchers assume that LMNA mutations causing DCM make the prognosis worse in comparison to other etiologies. The present study aimed to identify possible polymorphisms in exon 2 of the LMNA gene associated with DCM in Iranian population.
  • Methods: Peripheral blood samples were collected from 30 patients with DCM and 30 healthy subjects as a control group. The extraction process of DNA molecule was carried out from the peripheral blood samples, and then PCR was performed in order to replicate the desired components. PCR products were sequenced and analyzed statistically to identify possible polymorphisms. This project was done under the ethical approval number IR.SBMU.MSP.REC.1396.701.
  • Results: In the samples studied in current study, no previously known polymorphisms or mutations (eg: 497G> C (Arg166Pro), 481G> A (E161K)), were found for exon 2 of the LMNA gene.
  • Conclusion: Based on previous studies, it can be declared that the polymorphisms of the second exon of the LMNA gene are generally less risky for dilated cardiomyopathy than other exons of this gene. In the Iranian population studied, exon 2 of the LMNA gene was not considered as a hot spot for mutations associated with DCM; however, it is necessary to investigate the association of this exon with other diseases in the group of laminopathies.
  • Keywords: DCM, Dilated Cardiomyopathy, LMNA, SNPs