INF2 gene and kidney podocyte health
INF2 in kidney function and dysfunction
['FUNDING_R01'] · BETH ISRAEL DEACONESS MEDICAL CENTER · NIH-11366777
This project looks at how changes in the INF2 gene affect podocytes, the kidney cells that keep your blood filters working, especially in adults with genetic FSGS or stress-related kidney injury.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BETH ISRAEL DEACONESS MEDICAL CENTER (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11366777 on ClinicalTrials.gov |
What this research studies
Researchers will trace how INF2 mutations change the internal scaffolding (actin) inside podocytes and make them more vulnerable to injury. They use cultured cells and genetically modified mice, and they expose kidneys to stressors like ischemia-reperfusion and angiotensin II to mimic injury. The team studies calcium-triggered actin assembly (CIA) and how disease mutations in INF2 alter its normal autoinhibition and interactions with proteins such as ACTN4 and TRPC6. Findings will be compared with human genetic data and known INF2 mutations to link molecular changes to podocyte loss.
Who could benefit from this research
Good fit: Adults (21+) with INF2 mutations, familial or genetic focal segmental glomerulosclerosis (FSGS), or other podocyte-related kidney disorders would be the most relevant candidates.
Not a fit: People whose kidney problems are caused by infections, structural urinary tract issues, or non-podocyte-related diseases are unlikely to benefit directly from this work.
Why it matters
Potential benefit: If successful, this work could reveal targets to prevent podocyte loss and guide new treatments or better genetic counseling for people with INF2-related kidney disease.
How similar studies have performed: Prior studies have already linked INF2 mutations to FSGS and shown gain-of-function effects and altered calcium-induced actin dynamics, but direct treatments based on these findings remain novel.
Where this research is happening
BOSTON, UNITED STATES
- BETH ISRAEL DEACONESS MEDICAL CENTER — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: POLLAK, MARTIN R. — BETH ISRAEL DEACONESS MEDICAL CENTER
- Study coordinator: POLLAK, MARTIN R.
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.