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

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

PROVIDER: PRJNA1113659 | ENA |

REPOSITORIES: ENA

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

Project description: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 single-nucleus RNA sequencing (snRNA-seq) to generate a single-nucleus transcriptomic atlas of human ovaries from pre-pubertal girls with CG to investigate dynamic gene expression profiles in ovarian follicles and stromal cells. Our snRNA-seq analysis revealed activation of several key genes involved in endoplasmic reticulum-stress and oxidative stress pathways which can promote apoptosis and autophagy of follicles. PTEN/PI3K/AKT signaling pathway crucial for primordial follicle activation and survival was dysregulated as evident by upregulated PTEN transcripts, marked reduction in phospho-AKT and increased CASP9 immunostaining intensity in the ovarian follicles of CG group.

2025-02-19 | GSE267932 | GEO

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

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

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

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Early Postnatal Alterations in Follicular Stress Response and Survival in a Mouse Model of Classic Galactosemia

Project description:Primary ovarian insufficiency (POI) is characterized by accelerated loss of primordial follicles, which results in ovarian failure and concomitant menopause before age 40. 1-3% of females in the general population are diagnosed with POI and 80% of females with the inherited disease Classic Galactosemia (CG) will develop POI. CG is caused by mutations in the GALT gene encoding the enzyme galactose-1-phosphate uridylyltransferase. While dietary restriction of galactose is lifesaving in the neonatal period, the development of severe complications including POI is not mitigated. Additionally, the pattern of follicle loss have not been completely characterized. The chronic accumulation of aberrant metabolites such as galactose-1 phosphate and galactitol are the suspected culprits in the development of the sequelae, yet the mechanisms remain elusive. Our group uses a GalT gene-trapped mouse model to study the pathophysiology of CG. Recently, we showed that alterations in the Integrated Stress Response pathway occur in the ovaries of these mice, likely contributing to the POI phenotype. Using immunofluorescent staining in whole-ovary histology at progressive ages, we saw evidence of altered Integrated Stress Response activity in granulosa cells and primordial oocytes leading to accelerated primordial follicle growth, aberrant DNA damage repair, and increased cellular stress/death. RNA-sequencing of whole ovary revealed significant alterations in cholesterol/lipid metabolism and transcriptional regulation. Overall, our findings indicate abnormal stress response results in accelerated primordial follicle activation or “burnout,” which may explain the POI phenotype of fewer primordial follicles at later ages.

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Transcriptome data from human Th17, classic Th1 and non-classic Th1 cell clones

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Project description:The zinc finger e-box binding homeobox 1 (ZEB1) transcription factor is a master regulator of the epithelial to mesenchymal transition (EMT), and of the reverse mesenchymal to epithelial transition (MET) processes. ZEB1 plays an integral role in mediating cell state transitions during cell lineage specification, wound healing and disease. EMT/MET are characterized by distinct changes in molecular and cellular phenotype that are generally context-independent. Posterior polymorphous corneal dystrophy (PPCD), associated with ZEB1 insufficiency, provides a new biological context in which to understand and evaluate the classic EMT/MET paradigm. PPCD is characterized by a cadherin-switch and transition to an epithelial-like transcriptomic and cellular phenotype, which we study in a cell-based model of PPCD generated using CRISPR-Cas9-mediated ZEB1 knockout in corneal endothelial cells (CEnCs). Transcriptomic and functional studies support the hypothesis that CEnC undergo an MET-like transition in PPCD, termed endothelial to epithelial transition (EnET), and lead to the conclusion that EnET may be considered a corollary to the classic EMT/MET paradigm.

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