Epigenetic regulation of mastitis in buffalo: a DNA methylation study | LC 25

Biography

Ilaria Cascone is a final-year PhD student in Veterinary Science at the University of Naples. With a background in genetics applied to livestock, she focused her research on DNA methylation in buffaloes using nanopore devices. Fascinated by this innovative technology, Ilaria centred her PhD project on exploring epigenetic regulation to develop tools for disease management and genetic selection, aiming to enhance buffalo farming sustainability, productivity, and address key challenges in the dairy industry.

Abstract

In buffalo farming, genetic selection increasingly targets traits such as disease resistance, reproductive efficiency, and milk production. However, mastitis continues to pose a significant challenge for the dairy industry due to its negative impact on qualitative and quantitative milk production. The Mediterranean Italian River Buffalo is mainly bred for the production of milk for processing into Mozzarella di Bufala Campana PDO, therefore mastitis is one of the main causes of economic losses in this livestock sector. Epigenetic regulation has recently gained attention in understanding mastitis in buffaloes, particularly the role of DNA methylation in mammary gland health. DNA methylation, a key epigenetic mark, regulates gene expression. This study aimed to explore DNA methylation changes related to mastitis conditions in the Mediterranean Italian River Buffalo using nanopore technology. Blood and milk samples were collected from 15 female buffaloes of a dairy farm located in southern Italy. Animals were classified as healthy (SCC ≤ 200,000 cells/ml) or mastitic (SCC >400,000 cells/ml) and sequenced using the Oxford Nanopore PromethION 2 Solo device. We identified 22 differentially methylated cytosine sites (DMCs) and one differentially methylated region (DMR) in the healthy control versus mastitis group. In particular, a larger proportion of hypomethylated DMCs were found mainly in distal intergenic regions, suggesting a potential involvement of distant regulatory elements, such as enhancers or silencers. While 15% of hypermethylated DMCs were found in the promoter region, 1–2 kb upstream of the transcription start site (TSS). The enrichment analysis showed genes involved in cellular processes, regulation of cell proliferation and differentiation, and immune response. Future studies will increase the number of animals to validate these results. By investigating whether other diseases alter DNA methylation patterns at these or other genes, further investigations could develop a gene panel as an early disease biomarker in this species for improved disease management and genetic selection in buffalo farming.