How tRNA‑charging enzymes (ARSs) affect human health
Defining the Role of Aminoacyl-tRNA Synthetases in Human Health and Disease
['FUNDING_OTHER'] · UNIVERSITY OF MICHIGAN AT ANN ARBOR · NIH-11088319
Researchers are mapping how changes in tRNA‑charging enzymes (called ARSs) lead to inherited diseases to help people with genetic nerve, muscle, and developmental conditions.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| 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-11088319 on ClinicalTrials.gov |
What this research studies
This project uses computer analyses, lab experiments, and several living models (yeast, worms, and mice) to find which changes in ARS genes cause disease and how they harm cells. The team will test human gene variants in cells and animals to see which ones reduce enzyme activity or disrupt regulation. They will also study how ARS genes are controlled in different tissues and what non‑canonical functions these enzymes have. The goal is to create a clearer map of pathogenic versus benign variants to improve genetic diagnosis and inform future treatments.
Who could benefit from this research
Good fit: People with unexplained inherited nerve, muscle, or developmental disorders or those found to have variants in ARS genes would be the most relevant candidates for related testing or sample donation.
Not a fit: Patients with conditions unrelated to ARS biology or without relevant genetic variants are unlikely to gain direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could help doctors determine which ARS gene changes cause disease, speeding genetic diagnosis and guiding care or future therapies.
How similar studies have performed: Prior genetic and laboratory studies have linked specific ARS variants to inherited disease and shown loss‑of‑function effects, but a comprehensive, cross‑ARS mapping approach is relatively new.
Where this research is happening
ANN ARBOR, UNITED STATES
- UNIVERSITY OF MICHIGAN AT ANN ARBOR — ANN ARBOR, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ANTONELLIS, ANTHONY — UNIVERSITY OF MICHIGAN AT ANN ARBOR
- Study coordinator: ANTONELLIS, ANTHONY
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.