Dor Mohammad Kordi-Tamandani; Zohreh Rezaei; Akbar Dorgalaleh-Mail
Abstract
Congenital factor XIII deficiency is a very rare bleeding disorder, but because of the high rate of consanguineous marriages, it is common in Sistan and Baluchestan Province of Iran. The discovery of promoter hypermethylation of numerous miRNAs in human diseases has demonstrated an epigenetic mechanism ...
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Congenital factor XIII deficiency is a very rare bleeding disorder, but because of the high rate of consanguineous marriages, it is common in Sistan and Baluchestan Province of Iran. The discovery of promoter hypermethylation of numerous miRNAs in human diseases has demonstrated an epigenetic mechanism for aberrant miRNA expression. The present study has analyzed methylation and expression status of miR-185 and miR-132 genes in patients with inherited factor XIII deficiency in a sample of South-Eastern Iranian population. Promoter methylation of miR-185 and miR-132 was investigated by Methylation Specific Polymerase Chain Reaction (MS PCR) in blood samples of 75 factor XIII deficient individuals and 74 healthy controls. Expression level of these genes was also assessed in 15 blood samples of patients and 15 healthy controls using real-time quantitative reverse transcription PCR. Analysis of miR-132 and miR-185 promoter hypermethylation did not show any significant difference between cases and controls. Relative gene expression analysis in cases (n=15) with congenital factor XIII deficiency and healthy controls (n=15) revealed no statistically significant relationship for miR-132 (p = 0.126) and miR-185 (p = 0.165) genes. Our findings indicated that promoter methylation as well as gene expression of miR-132 and miR-185 had no significant effect on etiology of factor XIII deficiency.
