How leaking lysosomes and secreted cathepsins damage cartilage and heart in lysosomal storage diseases
Official title: Pathogenic Mechanisms of Lysosomal Disease
Funded at Greenwood Genetic Center · NIH-11127577 · Data updated 2026-11-12
Researchers are looking at whether enzymes called cathepsins that leak out of lysosomes harm cartilage and heart tissue in people with lysosomal storage diseases.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Greenwood Genetic Center NIH-funded |
| Lab location | 1 site (Greenwood, United States) |
| Project start | January 1, 2009 |
| Project end | June 30, 2026 |
| Funding year | 2025 |
| Award (this year) | $308,913 |
| NIH project number | 5R01NS128907-17 |
| Project ID | NIH-11127577 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with mucolipidosis II (MLII), sialidosis (NEU1), MPS IVA (GALNS), or other lysosomal storage disorders would be the most relevant candidates for future participation or sample donation.
✕Less likely to help
Patients with unrelated medical conditions or genetic disorders that do not involve lysosomal dysfunction are unlikely to benefit directly from this research.
What this research studies
This project uses zebrafish models and laboratory experiments to track how cathepsin enzymes escape lysosomes and act outside cells in lysosomal storage disorders. The team recreates different genetic forms of these diseases, measures cathepsin activity and lysosomal exocytosis, and watches effects on cartilage and heart development. They compare results across conditions such as mucolipidosis II, sialidosis, and MPS IVA to see if the same harmful pathway appears in multiple disorders. The ultimate aim is to pinpoint steps that drugs could block to protect tissues.
Why it matters
Potential benefit: If successful, this work could point to new drug targets to prevent tissue damage and lead to therapies for people with lysosomal storage disorders.
How similar studies have gone: Earlier laboratory and zebrafish work showed secreted cathepsins cause defects in mucolipidosis II, but applying this mechanism broadly across many lysosomal diseases is a newer extension.
Where this research is happening
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Greenwood Genetic Center
Greenwood, United States Active
Researchers
- Principal investigator: Steet, Richard — Greenwood Genetic Center
- Study coordinator: Steet, Richard
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.