Abstract
Alport syndrome is a progressive kidney disease caused by pathogenic variants in genes encoding type IV collagen, a major structural component of the glomerular basement membrane (GBM). Abnormal GBM architecture impairs filtration and triggers inflammation, fibrosis, and eventual kidney failure. Because disease progression is irreversible, identifying early molecular changes is essential for understanding disease onset. We performed glomerular single-cell RNA sequencing (scRNA-seq) in a Col4a5 G5X Alport mouse model at 5 weeks of age, prior to detectable proteinuria or GBM/podocyte abnormalities (pre-onset), and at 8 weeks, when mild proteinuria and structural defects emerged. Despite the early stage, scRNA-seq revealed widespread transcriptional alterations, most prominently in podocytes. Among genes upregulated at both time points, we identified Tumor Necrosis Factor Superfamily Member 15 (Tnfsf15), previously associated with kidney disease susceptibility but with unclear function. To determine its role in Alport syndrome, we generated Tnfsf15-deficient Alport mice. Tnfsf15 homozygous knockout mice exhibited increased proteinuria and exacerbated glomerular injury compared with Tnfsf15(+/+) Alport mice during early disease. These findings support a protective role for Tnfsf15 in the early stages of Alport syndrome, mitigating proteinuria and limiting glomerular injury.
| Original language | English |
|---|---|
| Pages (from-to) | 158-166 |
| Number of pages | 9 |
| Journal | Journal of Pharmacological Sciences |
| Volume | 160 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Mar 2026 |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Keywords
- Alport syndrome
- Early-stage disease
- Glomerular disease
- Single cell RNA-seq
- Tnfsf15
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Electron Microscopy
Mironov, A. (Core Facility Lead), Collins, R. (Core Facility Lead), Forbes, S. (Technical Specialist), Baldock, C. (Academic lead), Foster, F. (Other) & Becker, M. (Other)
FBMH Platform Sciences, Enabling Technologies & InfrastructureFacility/equipment: Facility
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