Investigating a genetic mutation linked to motor neuron degeneration
Pathogenesis and motor neuron degeneration of a novel disease associated with a P158A mutation in NAMPT
This study is looking at a genetic change in the NAMPT gene that causes a rare nerve condition, which makes it hard for people to move and can weaken their muscles, and by examining skin cells from those affected, researchers hope to find ways to help improve their health.
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-11000810 on NIH RePORTER |
What this research studies
This research focuses on understanding a specific genetic mutation in the NAMPT gene that leads to a rare neurological disease characterized by motor coordination issues and muscle weakness in affected individuals. By studying skin-derived fibroblasts from patients with this mutation, researchers aim to uncover the underlying mechanisms of bioenergetic stress and neuronal degeneration. The approach includes analyzing cellular functions and bioenergetics to identify potential therapeutic targets for improving patient outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with hereditary motor and sensory neuropathy associated with the P158A mutation in the NAMPT gene.
Not a fit: Patients without the specific NAMPT gene mutation or those with unrelated neurological conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients suffering from motor neuron degeneration linked to genetic mutations.
How similar studies have performed: While the specific mutation and its effects are novel, research on NAD+ dysregulation in neurodegenerative diseases has shown promising results in understanding similar conditions.
Where this research is happening
Columbia, United States
- University of Missouri-Columbia — Columbia, United States (Active)
Researchers
- Principal investigator: Ding, Shinghua — University of Missouri-Columbia
- Study coordinator: Ding, Shinghua
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.