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The study of MED12 gene mutations in uterine leiomyomas from Iranian patients.
Tumour Biol. 2016 Feb; 37(2):1567-71.TB

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+Show Affiliations

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Koodakyar St, Velenjak Ave, Chamran highway, Terhan, Iran, 19395-4719.Department of Biology, Islamic Azad University of Tehran, Science and Research Branch, Tehran, Iran.Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Koodakyar St, Velenjak Ave, Chamran highway, Terhan, Iran, 19395-4719.Department of Biology, Islamic Azad University of Tehran, Science and Research Branch, Tehran, Iran.Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Koodakyar St, Velenjak Ave, Chamran highway, Terhan, Iran, 19395-4719.Department of Biology, Islamic Azad University of Tehran, Science and Research Branch, Tehran, Iran.Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Koodakyar St, Velenjak Ave, Chamran highway, Terhan, Iran, 19395-4719.Mirza Koochak Khan Hospital, Tehran University of Medical Sciences, Tehran, Iran.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.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

26298726

Citation

Sadeghi, Samaneh, et al. "The Study of MED12 Gene Mutations in Uterine Leiomyomas From Iranian Patients." Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, vol. 37, no. 2, 2016, pp. 1567-71.
Sadeghi S, Khorrami M, Amin-Beidokhti M, et al. The study of MED12 gene mutations in uterine leiomyomas from Iranian patients. Tumour Biol. 2016;37(2):1567-71.
Sadeghi, S., Khorrami, M., Amin-Beidokhti, M., Abbasi, M., Kamalian, Z., Irani, S., Omrani, M., Azmoodeh, O., & Mirfakhraie, R. (2016). The study of MED12 gene mutations in uterine leiomyomas from Iranian patients. Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 37(2), 1567-71. https://doi.org/10.1007/s13277-015-3943-8
Sadeghi S, et al. The Study of MED12 Gene Mutations in Uterine Leiomyomas From Iranian Patients. Tumour Biol. 2016;37(2):1567-71. PubMed PMID: 26298726.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The study of MED12 gene mutations in uterine leiomyomas from Iranian patients. AU - Sadeghi,Samaneh, AU - Khorrami,Mandana, AU - Amin-Beidokhti,Mona, AU - Abbasi,Maryam, AU - Kamalian,Zeeba, AU - Irani,Shiva, AU - Omrani,Mirdavood, AU - Azmoodeh,Ozra, AU - Mirfakhraie,Reza, Y1 - 2015/08/23/ PY - 2015/07/08/received PY - 2015/08/17/accepted PY - 2015/8/24/entrez PY - 2015/8/25/pubmed PY - 2017/1/28/medline KW - MED12 gene KW - Mutation KW - Uterine leiomyomas SP - 1567 EP - 71 JF - Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine JO - Tumour Biol. VL - 37 IS - 2 N2 - 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. SN - 1423-0380 UR - https://www.unboundmedicine.com/medline/citation/26298726/The_study_of_MED12_gene_mutations_in_uterine_leiomyomas_from_Iranian_patients_ L2 - https://link.springer.com/article/10.1007/s13277-015-3943-8 DB - PRIME DP - Unbound Medicine ER -