Understanding a new severe lysosomal storage disease caused by TMEM251 mutations
Characterization of TMEM251 that causes a new type of severe lysosome storage disease
This study is looking into a rare genetic condition caused by changes in the TMEM251 gene that affects how our cells break down waste, which can lead to serious health problems like bone and heart issues, and aims to find ways to help those who are affected.
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-10902075 on NIH RePORTER |
What this research studies
This research investigates a newly identified severe lysosomal storage disease linked to mutations in the TMEM251 gene. The study aims to understand how these mutations disrupt lysosomal function, leading to serious health issues such as skeletal dysplasia and cardiac defects. Using advanced techniques like CRISPR, researchers will explore the cellular mechanisms involved and how lysosomal enzymes are improperly processed and secreted. The findings could provide insights into potential therapeutic strategies for affected patients.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with severe lysosomal storage diseases, particularly those with mutations in the TMEM251 gene.
Not a fit: Patients with lysosomal storage diseases caused by other genetic mutations unrelated to TMEM251 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients suffering from severe lysosomal storage diseases.
How similar studies have performed: While this specific research on TMEM251 is novel, similar studies on lysosomal storage diseases have shown promising results in understanding and treating these conditions.
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.