Understanding how cell powerhouses cause inflammation in a childhood brain disease
The Mitochondrion-STING Axis in An Early Childhood Onset Neurodegenerative Disease
This research explores how problems with cell powerhouses, called mitochondria, lead to inflammation in children with a severe brain condition called NGLY1 deficiency.
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-11123425 on NIH RePORTER |
What this research studies
Our cells' powerhouses, mitochondria, can trigger inflammation when damaged, similar to how the body reacts to bacteria. We've found that a missing protein, NGLY1, causes mitochondrial damage and activates a strong inflammatory response in the brain. This project aims to uncover exactly how this inflammation contributes to the severe brain problems seen in children with NGLY1 deficiency, a condition currently without a cure. We will look at specific brain cells and their internal signals to understand this process better. Ultimately, we hope to test new treatments that target this inflammatory pathway.
Who could benefit from this research
Good fit: Patients with NGLY1 deficiency or similar early-onset neurodegenerative conditions, particularly those experiencing severe coordination and motor function issues, could potentially benefit from future therapies developed from this research.
Not a fit: Patients whose conditions are not related to mitochondrial damage or the specific inflammatory pathway being studied may not directly benefit from this particular research.
Why it matters
Potential benefit: If successful, this work could reveal new ways to treat NGLY1 deficiency and potentially other brain diseases by targeting the inflammation caused by damaged mitochondria.
How similar studies have performed: Our team has already shown that NGLY1 deficiency causes mitochondrial damage and activates this inflammatory pathway, providing a strong foundation for this deeper investigation into the disease mechanism.
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.