Why losing parts of the Y chromosome may drive TTR heart amyloidosis in men
Official title: Mosaic Loss of the Y Chromosome in Cardiac Amyloidosis
Funded at University of Virginia · NIH-11258520 · Data updated 2026-11-12
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 start | April 15, 2024 |
| Project end | January 31, 2029 |
| Funding year | 2026 |
| Award (this year) | $579,843 |
| NIH project number | 5R01AG086508-03 |
| Project ID | NIH-11258520 on NIH RePORTER |
Who could benefit from this research
✓Could help
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.
✕Less likely to help
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.
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.
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 gone: 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
-
University of Virginia
Charlottesville, United States Active
Researchers
- Principal investigator: Walsh, Kenneth — University of Virginia
- Study coordinator: Walsh, Kenneth
Related research
Other NIH-funded projects on the same topics.
-
Identifying Hidden Cardiac Amyloidosis in Black V122I TTR Carriers
This project looks for early signs of heart damage in Black individuals who carry the V122I TTR variant and may benefit from new treatments if caught early.
-
Chip phosphorylation boosts breakdown of mutant TTR to help heart amyloidosis
A scientist-led project aims to help people with a heart disease caused by a mutant protein called transthyretin (TTR) by boosting the body’s protein-cleanup systems to remove the harmful TTR deposits.
-
Finding transthyretin heart amyloid from lumbar spine surgery tissue
This project looks for transthyretin (TTR) amyloid in tissue removed during lumbar spine surgery to find people who may later develop TTR cardiac amyloidosis.
-
Blood biomarker test for heart amyloidosis in Black and Hispanic people
A blood test called TAD1 is being checked to detect dangerous heart amyloidosis earlier in Black and Hispanic patients who have heart failure.
-
PET tracer to image cardiac amyloidosis
A new PET tracer is being developed to help visualize amyloid buildup in the heart, potentially helping people with amyloidosis and related heart disease.
-
Improving outcomes in cardiac amyloidosis using innovative imaging techniques
This study is looking at new ways to use advanced imaging to improve how we diagnose and treat cardiac amyloidosis, helping doctors create personalized care plans for patients while also training future researchers in this important area.
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.