Understanding how a protein mutation affects kidney function
Official title: Structural basis for deficient actin mechanosensing in ACTN4-driven podocytopathy
Funded at Weill Medical Coll of Cornell Univ · NIH-11065412 · Data updated 2026-11-12
This study is looking at a protein called α-Actinin-4 in kidney cells to understand how changes in this protein can cause kidney problems like focal segmental glomerulosclerosis (FSGS), which could help find new ways to treat these conditions.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Weill Medical Coll of Cornell Univ NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | April 1, 2024 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $54,538 |
| NIH project number | 5F30DK138769-02 |
| Project ID | NIH-11065412 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with a diagnosis of focal segmental glomerulosclerosis or those with known mutations in the ACTN4 gene.
✕Less likely to help
Patients without genetic mutations affecting the ACTN4 protein or those with unrelated kidney conditions may not benefit from this research.
What this research studies
This research investigates the role of a specific protein, α-Actinin-4, in kidney cells and how mutations in this protein can lead to kidney diseases like focal segmental glomerulosclerosis (FSGS). By using advanced imaging techniques and laboratory assays, the researchers aim to visualize how the mutated protein interacts with actin, a key component of cell structure, under different forces. This could help clarify why certain genetic mutations result in kidney dysfunction and provide insights into potential therapeutic targets.
Why it matters
Potential benefit: If successful, this research could lead to new strategies for diagnosing and treating kidney diseases caused by genetic mutations.
How similar studies have gone: While the specific approach of visualizing force-dependent changes in actin-binding proteins is novel, similar studies have successfully elucidated mechanisms of other protein-related diseases.
Where this research is happening
-
Weill Medical Coll of Cornell Univ
New York, United States Active
Researchers
- Principal investigator: Chin, Alfred Choon Kit — Weill Medical Coll of Cornell Univ
- Study coordinator: Chin, Alfred Choon Kit
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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.