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Aberrant DNA methylation in the PAX2 promoter is associated with Müllerian duct anomalies

Chao Wang1,2,3, Qiong Xing1,2,3, Bing Song1,4,5

  • 1Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, No. 218 Jixi Road, Hefei, 230022, Anhui, China.

Archives of Gynecology and Obstetrics
|April 20, 2020
PubMed
Abstract

Insights

DNA methylation abnormalities in PAX2 may contribute to Müllerian duct anomalies (MDA). Other gene methylation statuses, including HOXA10 and WNT4, were not found to be significantly associated with MDA development in this study.

Area of Science:

  • Reproductive biology
  • Developmental biology
  • Epigenetics

Background:

  • Müllerian duct anomalies (MDA) arise from developmental errors in the Müllerian duct and female reproductive tract.
  • Previous research linked MDA to gene mutations and DNA copy number variation (CNV).
  • The role of gene methylation in MDA pathogenesis remains largely unexplored.

Purpose of the Study:

  • To investigate the correlation between DNA methylation patterns and the development of Müllerian duct anomalies (MDA).
  • To analyze the methylation status and mRNA levels of nine candidate genes in endometrial tissues from patients with MDA.

Main Methods:

  • Endometrial tissues were obtained from patients with septate uterus (n=23) and normal uterus (n=28).
  • DNA methylation status of CpG sites and mRNA levels of nine genes (HOXA10, EMX2, TP63, ITGB3, PAX2, LHX1, GSC, WNT4, H19) were assessed.
  • MethyTarget and quantitative real-time PCR (qRT-PCR) were employed for methylation and mRNA analysis, respectively.

Main Results:

  • Three CpG sites were hypomethylated, and PAX2 mRNA levels were increased in individuals with MDA compared to controls (P < 0.05).
  • Differential methylation was observed in HOXA10, EMX2, TP63, ITGB3, LHX1, and GSC, but without significant changes in their mRNA levels.
  • WNT4 and H19 showed no significant differences in methylation or mRNA levels between groups.

Conclusions:

  • Aberrant DNA methylation in the PAX2 promoter may play a role in MDA development by influencing gene expression.
  • The methylation status of HOXA10, EMX2, TP63, ITGB3, LHX1, GSC, WNT4, and H19 is unlikely to be a major factor in MDA pathogenesis.
Keywords:
EpigeneticMethylationMüllerian duct anomaliesPAX2

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