CYP24A1 expression analysis in uterine leiomyoma regarding MED12 mutation profile
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GYNECOLOGIC ONCOLOGY
CYP24A1 expression analysis in uterine leiomyoma regarding MED12 mutation profile Elnaz Fazeli1 · Samira Piltan1 · Milad Gholami2 · Mojdeh Akbari1 · Zahra Falahati3 · Fakhrolmolook Yassaee4 · Hossein Sadeghi5 · Reza Mirfakhraie1,5 Received: 10 May 2020 / Accepted: 25 September 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Introduction Uterine leiomyoma (ULM) is the most common gynecological tumor. Recent studies have revealed the role of hypovitaminosis D as a major risk factor in the disease development. CYP24A, a mitochondrial enzyme that catalyzes the degradation of 1,25(OH)2D3, is reported to be over-expressed in several human cancers. In this study, we aimed to investigate the expression level of CYP24A1 in leiomyoma samples compared with the adjacent tissues regarding the MED12 mutation profile. Materials and methods In the present study, 61 ULMs and adjacent tissue samples were collected from 51 women undergoing hysterectomy and myomectomy. The samples were Sanger sequenced for MED12 mutation, and the expression level of CYP24A1 was evaluated by quantitative real-time polymerase chain reaction (qRT-PCR). Results The results demonstrated that CYP24A1 gene was ectopically expressed in 18% of uterine leiomyoma tissues, although this expression was independent of the MED12 mutation profile. Conclusion The findings of the present study support current evidence that dysregulation of vitamin D signaling and metabolic pathways may be involved in at least some subtypes of ULMs. Keywords Leiomyoma · Vitamin D · CYP24A1 · MED12 Elnaz Fazeli and Samira Piltan contributed equally to this work. * Fakhrolmolook Yassaee [email protected] * Hossein Sadeghi [email protected] * Reza Mirfakhraie [email protected] 1
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Koodakyar St, Velenjak Ave, Chamran highway, 19395‑4719 Tehran, Iran
2
Department of Biochemistry and Genetics, School of Medicine, Arak University of Medical Sciences, Arak, Iran
3
Department of Cell and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Karaj, Iran
4
Department of Obstetrics and Gynecology, Taleghani Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
5
Molecular Genetics Department, Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Introduction Uterine leiomyomas (ULMs), also referred to as myoma and fibroids, are monoclonal, benign tumors arise from the smooth muscle cells of the uterus [1]. ULMs are the most common gynecologic tumors and affect up to 70% of women at reproductive age [2]. Regardless of their benign nature, ULMs can cause significant morbidity during the reproductive years. The most related complications include pelvic pain, abnormal uterine bleeding, anemia (due to the excessive menstrual blood loss), dysmenorrhea (painful menses), infertility, preterm labor, and recurrent pregnancy loss [1, 3]. Despite the hi
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