Why losing parts of the Y chromosome may drive TTR heart amyloidosis in men
Mosaic Loss of the Y Chromosome in Cardiac Amyloidosis
The team is looking at whether loss of the Y chromosome in blood cells helps explain why men develop transthyretin (TTR) heart amyloidosis.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Virginia NIH-funded |
| Lab location | 1 site (Charlottesville, United States) |
| Project ID | NIH-11258520 on NIH RePORTER |
What this research studies
If I join, researchers will compare blood and heart tissue from men with TTR cardiac amyloidosis to controls to measure mosaic loss of the Y chromosome (mLOY) and related immune changes. They will analyze patient genetic and clinical data to link mLOY levels with disease presence and severity. In parallel, lab experiments and mouse models will test how loss of the Y in blood cells might cause protein buildup and heart dysfunction. The goal is to find biomarkers and mechanisms that could point to new tests or treatments.
Who could benefit from this research
Good fit: Ideal candidates are men diagnosed with transthyretin cardiac amyloidosis (wild-type or hereditary) who can provide blood samples and clinical information and possibly tissue from biopsy or autopsy.
Not a fit: People without TTR-related amyloidosis (for example, other types of amyloid or unrelated heart disease) and those unable to provide samples are unlikely to benefit directly from this project in the near term.
Why it matters
Potential benefit: If successful, this work could explain the strong male bias in TTR amyloidosis and lead to new blood tests or therapies to detect or slow the disease.
How similar studies have performed: Prior studies have linked mLOY to cardiovascular disease in humans and produced heart failure when induced in mice, and early patient associations with ATTR are promising but still new.
Where this research is happening
Charlottesville, United States
- University of Virginia — Charlottesville, United States (Active)
Researchers
- Principal investigator: Walsh, Kenneth — University of Virginia
- Study coordinator: Walsh, Kenneth
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.