Investigating how mitochondrial damage affects neurodegenerative diseases in children
The Mitochondrion-STING Axis in An Early Childhood Onset Neurodegenerative Disease
This study is looking at how problems with tiny energy factories in cells, called mitochondria, might contribute to a brain disease in children caused by changes in the NGLY1 gene, and it aims to find new ways to help treat this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project ID | NIH-10923986 on NIH RePORTER |
What this research studies
This research focuses on understanding the role of mitochondria in a specific neurodegenerative disease that affects children due to mutations in the NGLY1 gene. The study uses a mouse model to explore how damaged mitochondria activate immune responses that may lead to neurological decline. Researchers will investigate the specific cell types involved and the signaling pathways that are disrupted, as well as potential therapies targeting these mechanisms. The goal is to uncover the underlying causes of this disease and identify new treatment strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with NGLY1 deficiency or related early-onset neurodegenerative conditions.
Not a fit: Patients with neurodegenerative diseases not linked to mitochondrial dysfunction or NGLY1 mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapies for early childhood neurodegenerative diseases, improving outcomes for affected children.
How similar studies have performed: Previous research has shown promising results in understanding mitochondrial dysfunction in neurodegenerative diseases, suggesting that this approach may yield valuable insights.
Where this research is happening
Dallas, United States
- Ut Southwestern Medical Center — Dallas, United States (Active)
Researchers
- Principal investigator: Yan, Nan — Ut Southwestern Medical Center
- Study coordinator: Yan, Nan
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.