Identifying harmful genetic variants in the manganese transporter SLC39A8
Screening Variants of Unknown Significance to Identify Pathogenic Variants of the Manganese Transporter SLC39A8
This study is looking at how different genetic changes in a transporter that helps manage manganese in the body might lead to health problems, especially for people who may be at risk for neurological disorders, so they can better understand their health.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Michigan State University NIH-funded |
| Lab location | 1 site (East Lansing, United States) |
| Project ID | NIH-11137166 on NIH RePORTER |
What this research studies
This research investigates the genetic variants of the SLC39A8 transporter, which is crucial for manganese regulation in the body. By screening various genetic mutations, the study aims to determine which variants are pathogenic and could lead to health issues like neurological disorders. The approach involves advanced techniques such as transport assays and flow cytometry to analyze how these variants affect manganese transport and cellular function. Patients with certain genetic backgrounds may benefit from understanding their risk for related disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with known mutations in the SLC39A8 gene or those with unexplained neurological symptoms potentially linked to manganese metabolism.
Not a fit: Patients without any genetic mutations in the SLC39A8 gene or those not experiencing manganese-related health issues may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could help identify genetic risks for manganese-related disorders, leading to better diagnosis and management for affected patients.
How similar studies have performed: Previous research has successfully identified pathogenic variants in other transporters using similar methodologies, suggesting a promising approach for this study.
Where this research is happening
East Lansing, United States
- Michigan State University — East Lansing, United States (Active)
Researchers
- Principal investigator: Hu, Jian — Michigan State University
- Study coordinator: Hu, Jian
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.