Differentially Expressed Genes, Micro RNAs, and Altered Methylation Patterns in Women with PCOS (Code-T0094)

Introduction: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder affecting women of reproductive age, characterized by hyperandrogenism, ovulatory dysfunction, and polycystic ovarian morphology. Recent research highlights the role of genetic, epigenetic, and regulatory mechanisms, such as microRNAs and DNA methylation, in PCOS pathogenesis. Identifying these molecular alterations can enhance understanding and improve therapeutic strategies.

Aims & Objective: To investigate differentially expressed genes, microRNAs, and altered methylation patterns in the genes of women with PCOS, elucidating their roles in disease etiology and potential biomarkers.

Methods: This case-control study involved 50 women diagnosed with PCOS and 50 healthy controls. RNA sequencing and microarray analyses were performed to identify differentially expressed genes (DEGs) and microRNAs. DNA methylation profiling was conducted using bisulfite sequencing. Bioinformatics tools were used to analyze gene pathways, regulatory networks, and methylation patterns. Validation of key findings was performed using qRT-PCR and methylation-specific PCR.

Results: Several DEGs, including those associated with steroidogenesis and inflammation, were identified. Dysregulated microRNAs targeting key metabolic and reproductive pathways were observed. Methylation analysis revealed hypermethylation in genes regulating insulin signaling and hypomethylation in androgen receptor-related genes. Integrated analysis highlighted critical gene-microRNA-methylation interactions contributing to PCOS pathophysiology.

Conclusion: The study identified significant alterations in gene expression, microRNA regulation, and methylation patterns in PCOS. These findings provide insights into molecular mechanisms underlying PCOS and suggest potential biomarkers for diagnosis and treatment. Further research is warranted to validate these findings in larger cohorts.

Keywords: PCOS, Differentially expressed genes, MicroRNAs, DNA methylation, Epigenetics, Biomarkers.