How a NAMPT P158A gene change causes motor nerve and muscle loss
Pathogenesis and motor neuron degeneration of a novel disease associated with a P158A mutation in NAMPT
['FUNDING_R01'] · UNIVERSITY OF MISSOURI-COLUMBIA · NIH-11260227
This project aims to find how a NAMPT P158A genetic change leads to nerve damage and muscle weakness in people with hereditary motor and sensory neuropathy.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MISSOURI-COLUMBIA (nih funded) |
| Locations | 1 site (COLUMBIA, UNITED STATES) |
| Trial ID | NIH-11260227 on ClinicalTrials.gov |
What this research studies
Researchers will work with skin cells taken from affected patients and compare them to healthy control cells to see how the P158A change alters NAMPT activity, NAD+ production, and cellular energy. They will measure mitochondrial function and bioenergetics in patient-derived fibroblasts and use laboratory models to follow motor neuron and neuromuscular junction health over time. The team will link these molecular and cellular changes to clinical features like muscle atrophy and coordination problems. Results will point to biological steps that could be targeted to protect nerves or restore energy balance.
Who could benefit from this research
Good fit: Ideal candidates would be people with the confirmed NAMPT P158A mutation or patients with early-onset hereditary motor and sensory neuropathy and related lower-extremity muscle weakness who can provide clinical information or skin samples.
Not a fit: Patients with neuropathies caused by unrelated genes or without the NAMPT mutation are unlikely to receive direct benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could point to ways to raise NAD+ or protect motor neurons to slow or prevent muscle weakness and nerve degeneration in affected patients.
How similar studies have performed: Restoring NAD+ has shown benefit in animal models of aging and some neurodegenerative conditions, but this specific NAMPT P158A-linked disease is newly described and has not yet been treated in humans.
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.