Single-nucleus and spatial transcriptomics of human ovary: Molecular insights into signaling pathways underlying primary ovarian insufficiency in classic galactosemia [Spatial transcriptomics]

Classic galactosemia (CG) is a rare inborn error of galactose metabolism caused by mutations in GALT gene. Primary ovarian insufficiency (POI) is a later complication that affects 80% of women with CG due to significant decline in ovarian follicle reserve. The definite mechanisms underlying the early onset of POI in CG patients is not fully understood. We utilized spatial transcriptomics from 10x Visium to generate spatial landscape of human ovaries from pre-pubertal girls with CG to investigate dynamic gene expression profiles in the ovarian follicles and stromal cells. CG and control ovarian FFPE sections were processed for Visium spatial transcriptomic protocol (10x Genomics).