Understanding kidney dysfunction in Dent disease
Endocytic Pathway Dysfunction in Dent Disease
This study is looking into how a genetic condition called Dent disease affects kidney function, specifically how changes in a protein called ClC-5 make it hard for kidneys to handle proteins properly, and the researchers hope to find new ways to help improve kidney health for those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project ID | NIH-10798242 on NIH RePORTER |
What this research studies
This research investigates the underlying mechanisms of Dent disease, a genetic disorder that leads to kidney dysfunction characterized by tubular proteinuria. The study focuses on how mutations in the ClC-5 protein affect the kidney's ability to properly uptake filtered proteins, which is crucial for kidney health. Researchers will employ a variety of methods, including genetic analysis and biochemical techniques, to identify the specific steps in protein trafficking that are disrupted in this condition. The ultimate goal is to find potential therapeutic targets that could restore normal kidney function.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Dent disease or those exhibiting symptoms of tubular proteinuria.
Not a fit: Patients with kidney dysfunction due to causes other than Dent disease may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve kidney function and prevent progression to end-stage renal disease in affected patients.
How similar studies have performed: Previous research has shown promise in understanding similar genetic disorders affecting kidney function, suggesting that this approach could yield valuable insights.
Where this research is happening
Pittsburgh, United States
- University of Pittsburgh at Pittsburgh — Pittsburgh, United States (Active)
Researchers
- Principal investigator: Weisz, Ora a — University of Pittsburgh at Pittsburgh
- Study coordinator: Weisz, Ora a
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.