CYP24A1expression analysis in uterine leiomyoma regardingMED12mutation profile

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)(2)D(3,)is reported to be over-expressed in several human cancers. In this study, we aimed to investigate the expression level ofCYP24A1in leiomyoma samples compared with the adjacent tissues regarding theMED12mutation 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 forMED12mutation, and the expression level ofCYP24A1was evaluated by quantitative real-time polymerase chain reaction (qRT-PCR). Results The results demonstrated thatCYP24A1gene was ectopically expressed in 18% of uterine leiomyoma tissues, although this expression was independent of theMED12mutation 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.

Automated summary

This study investigated the expression level of CYP24A1 in uterine leiomyoma samples compared to adjacent tissues. Results showed that CYP24A1 gene was ectopically expressed in 18% of uterine leiomyoma tissues, independent of the MED12 mutation profile. This supports the idea that dysregulation of vitamin D signaling and metabolic pathways may be involved in some subtypes of ULMs.