Investigating muscle disorders linked to purine metabolism deficiencies
Official title: Myopathy in purine metabolic disorders: a model for adenylosuccinate synthase deficiency
Funded at Pennsylvania State University, the · NIH-11138864 · Data updated 2026-11-12
This study is looking at how a lack of a specific enzyme called ADSS affects muscle health, especially in people with progressive myopathy, by using tiny worms to learn more about the genetic and energy changes that happen when this enzyme isn't working properly, which could help find new treatments in the future.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Pennsylvania State University, the NIH-funded |
| Lab location | 1 site (University Park, United States) |
| Project start | April 4, 2025 |
| Project end | March 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $233,494 |
| NIH project number | 1R21NS143788-01A1 |
| Project ID | NIH-11138864 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with myopathy linked to adenylosuccinate synthase deficiency or related purine metabolic disorders.
✕Less likely to help
Patients with myopathy not associated with purine metabolism or those with other unrelated muscle disorders may not benefit from this research.
What this research studies
This research aims to understand how deficiencies in the enzyme adenylosuccinate synthase (ADSS) lead to muscle disorders, specifically progressive myopathy. By developing a model using the organism C. elegans, researchers will explore the genetic and metabolic changes associated with ADSS deficiency. The study will focus on creating genetic tools to analyze the function of the ADSS enzyme and its impact on muscle function and energy metabolism. This approach could uncover new insights into the mechanisms of muscle dysfunction and pave the way for potential therapies.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for patients suffering from muscle disorders related to purine metabolism.
How similar studies have gone: While research on purine metabolism is ongoing, the specific approach of using C. elegans to model ADSS deficiency is novel and has not been extensively tested.
Where this research is happening
-
Pennsylvania State University, the
University Park, United States Active
Researchers
- Principal investigator: Hanna-Rose, Wendy — Pennsylvania State University, the
- Study coordinator: Hanna-Rose, Wendy
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.