How IGHMBP2 gene changes lead to nerve damage and affect cell RNA
Understanding the role of patient-derived Ighmbp2 mutations in neurodegeneration and pre-rRNA processing
This project uses mouse models based on patient IGHMBP2 mutations to compare why some mutations cause severe breathing-related SMA (SMARD1) while others cause milder neuropathy (CMT2S).
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Missouri-Columbia NIH-funded |
| Lab location | 1 site (Columbia, United States) |
| Project ID | NIH-11251766 on NIH RePORTER |
What this research studies
The team created six mouse models engineered with IGHMBP2 mutations found in patients to mimic SMARD1 and CMT2S. They compare how different mutations change symptoms, nerve cell health, and disease progression in those mice. Researchers also use biochemical tests to see how the mutant protein affects pre-rRNA processing and other cellular functions. These preclinical experiments include testing potential therapeutic approaches in the models to learn which paths might help patients in the future.
Who could benefit from this research
Good fit: People with a confirmed IGHMBP2 mutation or a clinical diagnosis of SMARD1 or CMT2S would be the most relevant patients for this research.
Not a fit: Patients whose motor neuron disease or neuropathy is caused by other genes or by non-genetic factors are unlikely to benefit directly from the specific findings of this project.
Why it matters
Potential benefit: If successful, the work could identify disease mechanisms and molecular targets that guide development of treatments for people with IGHMBP2-related SMARD1 or CMT2S.
How similar studies have performed: Prior laboratory studies have implicated IGHMBP2 in motor neuron disease, but these are the first patient-derived mouse models so therapeutic testing remains at an early preclinical stage.
Where this research is happening
Columbia, United States
- University of Missouri-Columbia — Columbia, United States (Active)
Researchers
- Principal investigator: Lorson, Christian L. — University of Missouri-Columbia
- Study coordinator: Lorson, Christian L.
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.