MED12 Exon 1 Mutational Screening in Iranian Patients with Uterine Leiomyoma

Uterine leiomyoma, also called fibroid, is a benign tumor that arises due to monoclonal transformation of myometrium, the smooth muscle cell layer of the uterus. Fibroids cause several complications including infertility, miscarriage, bleeding, pain, and dysmenorrhea. Recent studies have revealed the role of mutations in MED12 gene exon 2 in various populations; however, the reported frequency of these mutations differs between reports. In addition, it is suggested that mutations in exon 1 may also play a role in leiomyoma. The aim of the present study was to screen for MED12 exon 1 mutations in leiomyoma tissue samples of Iranian patients.

We performed mutational analysis of exon 1 and the flanking intronic regions using multi-temperature single-strand conformational polymorphism (MSSCP) and sequencing analyses in 120 uterine leiomyoma samples.

No mutations were detected in exon 1 of MED12 in our samples.

According to the literature and the present results, mutations in the MED12 exon 1 are rare. However, we could not ignore the role of these mutations in developing leiomyoma.