Understanding how mutations in a mitochondrial protein cause developmental diseases
Official title: Mechanistic etiology of developmental diseases caused by biallelic mutations in the mitochondrial Lon protease (111)
Funded at Rutgers Biomedical and Health Sciences · NIH-10989256 · Data updated 2026-11-12
This study is looking at how a specific protein in our cells, called Lon protease, works in people with CODAS syndrome, a condition caused by certain genetic changes, to better understand how these changes affect cell energy and health, with the hope of finding new ways to help.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Rutgers Biomedical and Health Sciences NIH-funded |
| Lab location | 1 site (Newark, UNITED STATES) |
| Project start | September 11, 2024 |
| Project end | August 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $431,750 |
| NIH project number | 1R21HD114113-01A1 |
| Project ID | NIH-10989256 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with CODAS syndrome or other developmental disorders associated with biallelic mutations in the LONP1 gene.
✕Less likely to help
Patients without biallelic mutations in the LONP1 gene or those with unrelated developmental disorders may not benefit from this research.
What this research studies
This research investigates the role of the mitochondrial Lon protease in developmental diseases caused by specific genetic mutations. By using patient-derived induced pluripotent stem cells (iPSCs) with mutations linked to CODAS syndrome, the researchers will explore how these mutations affect mitochondrial function and integrity. The study will employ advanced techniques to analyze mitochondrial protein turnover, energy production, and the binding of mitochondrial DNA by the Lon protease. This comprehensive approach aims to uncover the mechanisms behind the diseases and potentially identify therapeutic targets.
Why it matters
Potential benefit: If successful, this research could lead to new insights and treatments for patients with rare developmental diseases linked to mitochondrial dysfunction.
How similar studies have gone: While the specific approach of using iPSCs to study LONP1 mutations is innovative, similar methodologies have shown promise in understanding mitochondrial diseases in other contexts.
Where this research is happening
-
Rutgers Biomedical and Health Sciences
Newark, United States Active
Researchers
- Principal investigator: Suzuki, Carolyn K — Rutgers Biomedical and Health Sciences
- Study coordinator: Suzuki, Carolyn K
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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.