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Placental defects revealed by modelling Prader-Willi syndrome in mice
Anna E Webberley1, Raquel Boque-Sastre2, Lauren Bailey1
1Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, CF24 4HQ, UK.
Insights
Prader-Willi syndrome (PWS) may involve placental dysfunction. PWS gene loss in mice reduced placental cells, suggesting compromised nutrient transfer impacting fetal development.
Area of Science:
- Genetics
- Developmental Biology
- Reproductive Biology
Background:
- Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by the loss of paternally expressed genes on chromosome 15q11-q13.
- Abnormal feeding behaviors in PWS may originate from in utero programming via placental dysfunction.
Purpose of the Study:
- To investigate the expression of PWS genes in the mouse placenta.
- To determine the impact of PWS gene deletion on placental development and function in a mouse model.
Main Methods:
- Analysis of PWS gene expression in mouse placenta.
- Utilizing a novel PWS deletion mouse model (Large+/-).
- Quantification of Kdr-positive fetal endothelial cells in the placental labyrinth zone.
Main Results:
- Several PWS genes, including Magel2, Necdin, and Sngh14, are expressed in mouse placental fetal endothelial cells.
- The Large+/- PWS mouse model exhibited reduced placental PWS gene expression and a ~25% decrease in Kdr-positive cells.
- No significant reduction in late-gestation fetal growth was observed despite placental alterations.
Conclusions:
- PWS gene expression is present in the mouse placenta, specifically in cells crucial for nutrient transport.
- PWS gene deletion in mice leads to placental abnormalities, including reduced fetal endothelial cell populations.
- These findings suggest potential placental dysfunction and compromised nutrient transfer in PWS, possibly contributing to postnatal phenotypes.
Abstract:
The neurodevelopmental disorder Prader-Willi syndrome (PWS) is caused by paternally derived loss of gene expression from the imprinted interval on chromosome 15q11-q13. Recently, it has been suggested that the abnormal feeding-related behaviours characteristic of PWS can, in part, be developmentally programmed in utero via abnormal placental function. Here, we report that several PWS-associated genes were expressed in mouse placenta with three PWS-associated RNA transcripts, i.e. genes Magel2 and Necdin, and the lncRNA Sngh14, colocalised to the Kdr-positive (Kdr+) foetal endothelial cells of the labyrinth zone central to nutrient transport. In a novel PWS mouse model (Large+/-) we found markedly reduced expression of PWS-associated genes in the placenta and an associated ∼25% reduction in Kdr+ foetal endothelial cells. Although this did not directly translate into a significant reduction in foetal growth late in gestation, these data suggest that placental function and nutrient transfer from mother to foetus could be compromised in PWS contributing to later post-natal phenotypes.
