Molecular Features of Polycystic Ovary Syndrome Revealed by Transcriptome Analysis of Oocytes and Cumulus Cells

Polycystic ovary syndrome (PCOS) is typically characterized by a polycystic ovarian morphology, hyperandrogenism, ovulatory dysfunction, and infertility. Furthermore, PCOS patients undergoing stimulation have more oocytes; however, the poor quality of oocytes leads to lower fertilization implantation rates, decreased pregnancy increased miscarriage rates. The complex molecular mechanisms underlying remain be elucidated. We obtained matched cumulus cells (CCs) from patients, compared them with age-matched controls, performed RNA sequencing analysis explore transcriptional characteristics their CCs. Moreover, we validated our newly confirmed candidate genes for immunofluorescence. Unsupervised clustering showed that overall global gene expression patterns transposable element (TE) profiles tightly clustered together, clearly distinct those controls. Abnormalities in functionally important pathways are found oocytes. Notably, involved microtubule processes, TUBB8 TUBA1C , overexpressed metabolic oxidative phosphorylation also dysregulated both CCs patients. oocytes, differentially expressed TEs not uniformly dispersed human chromosomes. Endogenous retrovirus 1 ( ERV1 ) elements located on chromosomes 2, 3, 4, 5 rather highly upregulated. Interestingly, these correlate most protein-coding genes, including tubulin-associated TUBB8P8 linking occurrence PCOS. Our comprehensive CCs, TE expression, revealed specific features aberrantly elevated provides additional markers may contribute compromised oocyte developmental competence findings implications treatment strategies improve maturation outcomes women