Understanding how a specific enzyme affects mitochondrial function and inherited diseases
Official title: Investigating the Role of Seryl-tRNA Synthetase in Mitochondrial Biology and Human Recessive Disease
Funded at University of Michigan at Ann Arbor · NIH-11009490 · Data updated 2026-11-12
This study is looking at a special enzyme that helps make proteins in our cells and how changes in its genes might be linked to inherited diseases, so if you or someone you know has a condition related to energy production in cells, this research could help us understand it better.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project start | September 6, 2023 |
| Project end | September 5, 2025 |
| Funding year | 2024 |
| Award (this year) | $42,555 |
| NIH project number | 5F31HD111131-02 |
| Project ID | NIH-11009490 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with rare inherited diseases that may be associated with mutations in the seryl-tRNA synthetase gene.
✕Less likely to help
Patients with diseases not related to mitochondrial function or those without genetic variants in the seryl-tRNA synthetase gene may not benefit from this research.
What this research studies
This research investigates the role of seryl-tRNA synthetase, an enzyme crucial for protein synthesis in mitochondria, and its connection to various inherited diseases. The study aims to identify genetic variants that influence how this enzyme functions and leads to different disease outcomes. By conducting extensive cell growth assays, researchers will analyze the effects of these variants on cellular health and energy production. This work seeks to fill the knowledge gap regarding the genetic causes of diseases associated with mitochondrial dysfunction.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for rare inherited diseases linked to mitochondrial dysfunction.
How similar studies have gone: Previous research has shown promising results in understanding mitochondrial diseases through the study of aminoacyl-tRNA synthetases, indicating that this approach has potential for success.
Where this research is happening
-
University of Michigan at Ann Arbor
Ann Arbor, United States Active
Researchers
- Principal investigator: Del Greco, Christina — University of Michigan at Ann Arbor
- Study coordinator: Del Greco, Christina
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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.