How LUBAC problems cause harmful glycogen clumps (polyglucosan)
Uncovering the Mechanisms of Amylopectinosis in LUBAC Deficiency
Researchers are looking at how problems in the LUBAC protein complex make glycogen turn into sticky polyglucosan that can damage muscle and brain in affected people.
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-11142619 on NIH RePORTER |
What this research studies
This project will study why glycogen becomes insoluble and forms polyglucosan bodies in people with LUBAC deficiency. The team will analyze patient-derived samples and laboratory models to identify which proteins and pathways LUBAC controls during glycogen formation. They will examine tissues for polyglucosan deposits and test whether correcting LUBAC-related steps restores normal, soluble glycogen. The work aims to reveal targets or biomarkers that could guide future treatments for related muscle, heart, and brain disease.
Who could benefit from this research
Good fit: People with known LUBAC-related genetic mutations (for example RBCK1, HOIP, or SHARPIN) or patients with polyglucosan body disease, unexplained myopathy, cardiomyopathy, or neurodegeneration linked to polyglucosan deposits.
Not a fit: Patients whose conditions are unrelated to polyglucosan accumulation or who do not have LUBAC pathway abnormalities are unlikely to benefit directly from this research.
Why it matters
Potential benefit: If successful, this work could point to ways to prevent or remove polyglucosan clumps and slow or stop related muscle, heart, or brain damage.
How similar studies have performed: Previous work has linked other E3 ubiquitin ligases to glycogen structure, but focusing specifically on LUBAC's role is a novel direction with limited prior clinical results.
Where this research is happening
Dallas, United States
- Ut Southwestern Medical Center — Dallas, United States (Active)
Researchers
- Principal investigator: Mitra, Sharmistha — Ut Southwestern Medical Center
- Study coordinator: Mitra, Sharmistha
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.