How the myelin protein PMP22 folds and malfunctions in Charcot‑Marie‑Tooth disease
Folding, Misfolding, and Function of PMP22
This project looks at how changes in the PMP22 protein cause certain forms of Charcot‑Marie‑Tooth disease and who they affect.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University NIH-funded |
| Lab location | 1 site (Nashville, UNITED STATES) |
| Project ID | NIH-11264781 on NIH RePORTER |
What this research studies
From a patient's perspective, this work compares normal (overproduced) PMP22 with mutant PMP22 that causes more severe disease to see where each version goes inside cells and how the cell handles them. Researchers use lab-grown cells, biochemical tests, and microscopy to track PMP22 trafficking between the endoplasmic reticulum, ER‑to‑Golgi compartments, and the cytosol. They will also test whether a protein complex called BAG6 helps move or dispose of overproduced PMP22. The goal is to map the molecular steps that lead to myelin damage in different genetic forms of CMT.
Who could benefit from this research
Good fit: People with Charcot‑Marie‑Tooth caused by PMP22 duplication, deletion, or disease‑causing PMP22 mutations (for example CMT1A or Dejerine‑Sottas Syndrome) would be most relevant to this work.
Not a fit: Patients with neuropathies caused by other genes or non‑genetic causes are less likely to see direct benefit from these specific molecular findings.
Why it matters
Potential benefit: If successful, the findings could point to new ways to reduce harmful PMP22 buildup or improve its clearance, opening doors to targeted treatments for some CMT patients.
How similar studies have performed: Prior research has already linked abnormal PMP22 levels to CMT and shown benefit from correcting PMP22 in models, but the detailed study of PMP22 trafficking and the BAG6 complex is a newer, less tested angle.
Where this research is happening
Nashville, UNITED STATES
- Vanderbilt University — Nashville, United States (Active)
Researchers
- Principal investigator: Sanders, Charles R — Vanderbilt University
- Study coordinator: Sanders, Charles R
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.