Understanding how a specific enzyme affects mitochondrial function and inherited diseases
Investigating the Role of Seryl-tRNA Synthetase in Mitochondrial Biology and Human Recessive Disease
['FUNDING_FELLOWSHIP'] · UNIVERSITY OF MICHIGAN AT ANN ARBOR · NIH-11009490
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
| Phase | ['FUNDING_FELLOWSHIP'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MICHIGAN AT ANN ARBOR (nih funded) |
| Locations | 1 site (ANN ARBOR, UNITED STATES) |
| Trial ID | NIH-11009490 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with rare inherited diseases that may be associated with mutations in the seryl-tRNA synthetase gene.
Not a fit: 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.
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 performed: 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
ANN ARBOR, UNITED STATES
- 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
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.