Next-Generation Sequencing analysis discloses genes implicated in equine endometrosis that may lead to tumorigenesis.

The study focuses on understanding the genetic mechanisms underlying endometrosis in mares using Next Generation Sequencing technique. Researchers discovered 55 transcripts with differential expression that could influence fertility and pregnancy in mares with endometrosis, and some whose alterations might lead to tumorigenesis.

Sample Collection and Exam

• Endometrial samples used in the study were obtained from healthy mares and those diagnosed with endometrosis in the anestrus phase, a point in the estrous cycle when the mare is not sexually receptive.

Sequencing and Analysis

• The technique of Next Generation Sequencing was employed to analyze the genetic data for understanding the underlying mechanisms of endometrosis.
• The collected genetic data was studied for the involved genes in biological processes and pathways including sulfur metabolism, steroid hormone biosynthesis, ovarian steroidogenesis, and chemical carcinogenesis.
• The software tools such as STAR, KOBAS-I, STRING, and ClustVis were employed for the analysis.

Findings and Implications

• The bioinformatic analysis discovered the differential expression of 55 unique transcripts.
• A substantial number of genes displayed upregulated expression in tissues with endometrosis, which could be indicative of the disease’s impact.
• The subsequent protein-protein interaction analysis revealed a vast transcript network which included transcripts related to metabolism and immune response.
• Interestingly, some of these transcripts have been previously associated with various pathologies, including cancers in the female reproductive system.
• This implies that these genes are not only affected by the sex hormone feedback but also provide the metabolic and immune environment in tissues, impacting the fertility and pregnancy in mares with endometrosis.
• Moreover, some identified genes might be involved in tumorigenesis, leading to the formation of abnormal endometrial lesions.

Conclusion and Future Scope

• The study sheds light on certain genes that might be influencing endometrosis, fertility, and pregnancy in mares, as well as potentially leading to tumorigenesis.
• This knowledge could be foundational for further research and might pave the way for the development of targeted strategies for quick diagnosis or prevention of this pathology, by studying the gene and protein-protein interactions.