How TMEM251 gene changes cause a severe lysosomal storage disorder
Characterization of TMEM251 that causes a new type of severe lysosome storage disease
This project looks at how changes in the TMEM251 gene cause a severe lysosomal storage disease that leads to bone and heart problems in affected children.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-11179418 on NIH RePORTER |
What this research studies
From a patient's point of view, the team is tracing how TMEM251 problems make lysosomes fail so enzymes meant to work inside cells instead leak into the blood. They use gene editing (CRISPR) in human cells and create zebrafish models to see how losing TMEM251 changes development and causes the bone and heart problems seen in patients. The researchers measure enzyme secretion, look for buildup of undigested material in lysosomes, and study the molecular steps that go wrong in the cell. The goal is to link the genetic change to specific cellular failures that explain patient symptoms.
Who could benefit from this research
Good fit: Ideal candidates are people (often children) who have early-onset skeletal dysplasia, short stature, cardiomyopathy, or a confirmed or suspected TMEM251 mutation.
Not a fit: People without TMEM251 mutations or with unrelated medical conditions are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could improve diagnosis and point to targets for future treatments for people with TMEM251-related lysosomal disease.
How similar studies have performed: Genetic and animal-model studies have explained other lysosomal storage diseases and helped guide therapies, but TMEM251 is newly linked to this severe form and the work is still early-stage.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Li, Ming — University of Michigan at Ann Arbor
- Study coordinator: Li, Ming
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.