Understanding heart disease in PGM1‑CDG
Pathobiological mechanisms of cardiac disease in PGM1-CDG
This project looks at how PGM1‑CDG causes weakening of the heart muscle in people with PGM1‑CDG using mouse heart models and patient tissue.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Utah State Higher Education System--University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project ID | NIH-11231670 on NIH RePORTER |
What this research studies
Researchers created a heart‑specific Pgm2 knockout mouse (the mouse version of human PGM1) that shows dilated cardiomyopathy similar to patients. They use echocardiography, electron microscopy, and gene‑expression analyses to study heart structure, mitochondria, and molecular pathways. The team also compares findings with heart tissue from affected patients and notes that oral D‑galactose helps other symptoms but not the heart problem. The goal is to map the heart‑specific disease process so future treatments can target the root causes of cardiomyopathy in PGM1‑CDG.
Who could benefit from this research
Good fit: Ideal candidates are people diagnosed with PGM1‑CDG, especially those with early signs of dilated cardiomyopathy or who can provide clinical samples or records.
Not a fit: Patients without PGM1‑CDG or whose heart problems are due to other known causes are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could identify the biological steps that cause cardiomyopathy in PGM1‑CDG and point to new ways to protect or treat the heart.
How similar studies have performed: Earlier work found that D‑galactose improves liver and metabolic symptoms in PGM1‑CDG but does not fix the cardiomyopathy, so focused cardiac studies like this are relatively novel with limited prior therapeutic success.
Where this research is happening
Salt Lake City, United States
- Utah State Higher Education System--University of Utah — Salt Lake City, United States (Active)
Researchers
- Principal investigator: Lai, Kent — Utah State Higher Education System--University of Utah
- Study coordinator: Lai, Kent
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.