Understanding muscle weakness from ADSSL1 (adenylosuccinate synthase) deficiency
Myopathy in purine metabolic disorders: a model for adenylosuccinate synthase deficiency
['FUNDING_R21'] · PENNSYLVANIA STATE UNIVERSITY, THE · NIH-11311938
Researchers are making a tiny worm model to learn how ADSSL1 gene problems cause progressive muscle weakness so people with related myopathies can benefit in the future.
Quick facts
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | PENNSYLVANIA STATE UNIVERSITY, THE (nih funded) |
| Locations | 1 site (UNIVERSITY PARK, UNITED STATES) |
| Trial ID | NIH-11311938 on ClinicalTrials.gov |
What this research studies
If I had ADSSL1-related muscle weakness, this project would create a tiny roundworm (C. elegans) with the same gene problem to see how it affects movement and muscle energy. The team will build genetic tools, including a degron system to switch the gene off at specific times and places, to mimic the human enzyme deficiency. They will measure worm mobility and metabolic markers related to the purine nucleotide cycle to track how energy failures develop in muscle. The findings are meant to point to molecular targets or strategies that could be tested later in higher animals and eventually in people.
Who could benefit from this research
Good fit: People with genetically confirmed ADSSL1 (adenylosuccinate synthase) deficiency or progressive myopathy tied to purine metabolism would be most directly connected to this research.
Not a fit: Patients whose muscle weakness comes from unrelated causes or who do not have ADSSL1/purine metabolism issues would be unlikely to receive direct benefits from this basic lab project.
Why it matters
Potential benefit: If successful, this work could clarify how loss of ADSSL1 causes muscle damage and reveal targets for future treatments.
How similar studies have performed: Animal and worm models have successfully revealed mechanisms in other metabolic muscle diseases, but a C. elegans model specifically for ADSS/ADSSL1 deficiency is novel and untested.
Where this research is happening
UNIVERSITY PARK, UNITED STATES
- 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 below.