Document Type : Original Article
Department of Biology, Islamic Azad University, Central Tehran Branch, Tehran, IR Iran.
Department of Cardiology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
Background: Dilated cardiomyopathy (DCM) is one of the most common causes of heart failure. More than 40 genes with different strengths are involved in its pathogenesis. The second most important gene in DCM pathogenesis is the LMNA gene. LMNA has 12 exons and encodes Lamin A and Lamin C. This study aimed to screen any mutation that occurs in exons 4 and 5 of this gene in patients suffering from DCM.
Methods: Thirty patients with DCM were enrolled in this study. A control group was formed from 30 normal participants. After DNA extraction, polymerase chain reaction (PCR) was performed to amplify desired DNA fragments. Then, the amplified fragments were sequenced via the Sanger technique. The obtained sequences were statistically analyzed using the SPSS software, version 24.
Results: In exon 5, in 23.3% (n = 7) of the patients, 1 substitution mutation (c.861 T>C; rs538089) was detected. All the patients were heterozygous for this variant. The frequency for mutated alleles was significantly higher in the patients than in the normal controls (χ2 = 4.821; p = 0.028). No mutation was observed in exon 4 both in the patient and control groups.
Conclusions: Although rs538089 is a synonymous mutation, its predominant existence in the LMNA gene of our patients was interesting, as was its association with the female gender. It could be assumed that this variant may play a potential role in DCM. (Iranian Heart Journal 2020; 21(4): 103-110)