Understanding heart disease in PGM1‑CDG
Official title: Pathobiological mechanisms of cardiac disease in PGM1-CDG
Funded at Utah State Higher Education System--University of Utah · NIH-11231670 · Data updated 2026-11-12
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 start | December 1, 2023 |
| Project end | November 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $636,115 |
| NIH project number | 5R01HL167866-03 |
| Project ID | NIH-11231670 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are people diagnosed with PGM1‑CDG, especially those with early signs of dilated cardiomyopathy or who can provide clinical samples or records.
✕Less likely to help
Patients without PGM1‑CDG or whose heart problems are due to other known causes are unlikely to benefit directly from this project.
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.
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 gone: 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
-
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
Related research
Other NIH-funded projects on the same topics.
-
Four-Chamber Echo Insights to Improve Cardiac Diagnosis
A new AI-based approach uses routine echocardiograms to map the heart’s four chambers and flow patterns, helping doctors diagnose acute heart conditions more accurately.
-
Diabetes-related gut imbalance and heart disease in diabetes patients
A study to understand how changes in gut bacteria caused by diabetes may raise the risk of heart disease and to explore ways to prevent it.
-
Peripheral nervous system targets to reduce heart rhythm problems in high blood pressure and heart failure
A research project looks at how the nerves outside the brain influence dangerous heart rhythms in people with high blood pressure and heart failure, with the goal of finding new ways to reduce these risks.
-
How immune cells drive heart inflammation and repair
This project aims to find ways to calm overactive immune cells in people with heart injury or heart failure so the heart can heal with less scarring.
-
Understanding Heart Disease in Type 1 Diabetes
This research explores new ways to protect the heart from damage in people with type 1 diabetes, focusing on natural body chemicals called Substance P.
-
Understanding how nerve activity affects heart disease
This study is looking at how nerve activity affects heart problems like high blood pressure and heart failure, with the goal of finding new ways to prevent dangerous heart rhythms and help patients feel better.
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.