Investigating how a protein can help reduce heart damage from a genetic mutation
Official title: Chip phosphorylation stimulates the degradation of mutant transthyretin to attenuate cardiac amyloidosis
Funded at Johns Hopkins University · NIH-10882087 · Data updated 2026-11-12
This study is looking at a heart condition called cardiac amyloidosis, which happens when a protein builds up in the heart, and it's testing a new way to help break down these harmful proteins using a special enzyme, with the hope of finding better treatments for patients like you.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | September 1, 2024 |
| Project end | July 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $701,186 |
| NIH project number | 1R01HL169273-01A1 |
| Project ID | NIH-10882087 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with cardiac amyloidosis due to transthyretin mutations.
✕Less likely to help
Patients without transthyretin-related cardiac amyloidosis or those with other unrelated cardiac conditions may not benefit from this research.
What this research studies
This research focuses on cardiac amyloidosis caused by a mutation in the transthyretin protein, which leads to harmful protein aggregation in the heart. The study aims to enhance the degradation of these aggregates using a protein kinase called PKG, which has been shown to activate a key protein, Chip, that helps manage protein levels in heart cells. By creating advanced models and utilizing human tissue samples, the research seeks to uncover the mechanisms of this condition and develop potential therapeutic strategies. Patients may benefit from insights that could lead to new treatments for this serious heart disease.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that significantly improve heart function and quality of life for patients with cardiac amyloidosis.
How similar studies have gone: Previous research has shown promise in targeting protein degradation pathways for similar conditions, indicating potential for success in this novel approach.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Ranek, Mark John — Johns Hopkins University
- Study coordinator: Ranek, Mark John
Related research
Other NIH-funded projects on the same topics.
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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.
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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.
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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.
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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.
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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.
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Why losing parts of the Y chromosome may drive TTR heart amyloidosis in men
The team is looking at whether loss of the Y chromosome in blood cells helps explain why men develop transthyretin (TTR) heart amyloidosis.
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.