title: The study of MED12 gene mutations in uterine leiomyomas from Iranian patients.
abstract: Uterine leiomyomas are the most common gynecologic benign tumors of the female genital tract that cause a variety of health problems including, abnormal menstrual bleeding, pelvic pain, placenta displacement, premature labor, and miscarriages. Recently, studies showed that recurrent somatic mutations in MED12 exon 2 are the major cause of uterine leiomyomas in different ethnic groups. In order to validate these results in Iranian population, we performed mutational analysis of exon 2 and the flanking intronic regions by using single-strand conformational polymorphism (SSCP) and sequencing analyses in a series of 103 uterine leiomyomas samples. MED12 gene was mutated in 31.07 % of the uterine leiomyomas. Mutations were consisted of 20 missense (62.5 %) and 12 in-frame deletion (37.5 %) mutations and were not detected in normal myometrial tissue. Although this is the lowest mutation frequency reported so far, MED12 mutations are associated with fibroid pathogenesis in the studied population. Understanding the molecular mechanisms responsible for the pathogenesis of uterine leiomyoma will play an important role in designing new therapeutic strategies.
authors: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Koodakyar St, Velenjak Ave, Chamran highway, Terhan, Iran, 19395-4719.
authors: Samaneh
authors: S
authors: Sadeghi
authors: Department of Biology, Islamic Azad University of Tehran, Science and Research Branch, Tehran, Iran.
authors: Mandana
authors: M
authors: Khorrami
authors: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Koodakyar St, Velenjak Ave, Chamran highway, Terhan, Iran, 19395-4719.
authors: Mona
authors: M
authors: Amin-Beidokhti
authors: Department of Biology, Islamic Azad University of Tehran, Science and Research Branch, Tehran, Iran.
authors: Maryam
authors: M
authors: Abbasi
authors: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Koodakyar St, Velenjak Ave, Chamran highway, Terhan, Iran, 19395-4719.
authors: Zeeba
authors: Z
authors: Kamalian
authors: Department of Biology, Islamic Azad University of Tehran, Science and Research Branch, Tehran, Iran.
authors: Shiva
authors: S
authors: Irani
authors: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Koodakyar St, Velenjak Ave, Chamran highway, Terhan, Iran, 19395-4719.
authors: Mirdavood
authors: M
authors: Omrani
authors: Mirza Koochak Khan Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors: Ozra
authors: O
authors: Azmoodeh
authors: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Koodakyar St, Velenjak Ave, Chamran highway, Terhan, Iran, 19395-4719. reza_mirfakhraie@yahoo.com.|Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. reza_mirfakhraie@yahoo.com.
authors: Reza
authors: R
authors: Mirfakhraie
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007492:Iran; D007889:Leiomyoma / Q000235:genetics*; D056892:Mediator Complex / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014594:Uterine Neoplasms / Q000235:genetics*
chemical_list: C460107:MED12 protein, human; D056892:Mediator Complex
keywords: MED12 gene; Mutation; Uterine leiomyomas