Childhood hypomyelinating leukodystrophy linked to changes in the EPRS1 tRNA synthetase
Childhood-onset hypomyelinating leukodystrophy and the multi-tRNA synthetase complex
Researchers are examining how a change in the EPRS1 gene affects myelin formation in children with early-onset hypomyelinating leukodystrophy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cleveland Clinic Lerner Com-Cwru NIH-funded |
| Lab location | 1 site (Cleveland, United States) |
| Project ID | NIH-11239771 on NIH RePORTER |
What this research studies
This project follows children with early, severe developmental delay and brain hypomyelination who share a change in the EPRS1 gene; scientists will analyze patient cells and laboratory models to understand why EPRS1 protein levels are low even though the gene's mRNA and enzyme activity look normal. The team will study how the mutant EPRS1 behaves within the multi-tRNA synthetase complex and how that disrupts cell function relevant to making myelin. Work will likely include patient-derived cell lines, biochemical experiments, and molecular approaches to test ways to restore normal protein levels or compensate for the defect. The goal is to link the molecular problem to the neurological features so future therapies can be designed.
Who could benefit from this research
Good fit: Children with early-onset hypomyelinating leukodystrophy, particularly those with confirmed or suspected EPRS1 gene changes, would be the most relevant candidates to provide samples or participate.
Not a fit: People whose leukodystrophy is caused by unrelated genes, or adults with other neurological conditions, are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could identify molecular targets for therapies that boost EPRS1 protein or protect myelin in affected children.
How similar studies have performed: Research on other tRNA synthetase mutations has linked these enzymes to neurological disease, but targeted treatments are still experimental and this specific EPRS1 mutation is newly described.
Where this research is happening
Cleveland, United States
- Cleveland Clinic Lerner Com-Cwru — Cleveland, United States (Active)
Researchers
- Principal investigator: Fox, Paul L — Cleveland Clinic Lerner Com-Cwru
- Study coordinator: Fox, Paul L
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.