Targeting defective GIRK2 potassium channels in Keppen-Lubinsky syndrome
Structural Pharmacology of GIRK Channel Disease Mutants
Researchers are looking for drugs that block harmful GIRK2 potassium channels caused by mutations to help people with Keppen-Lubinsky syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11310200 on NIH RePORTER |
What this research studies
Scientists will create detailed 3D images of the faulty GIRK2 channel proteins to see how specific mutations change their shape and function. They will use computer-based screening to find molecules that might block the abnormal, overactive channels. Promising compounds will be tested in laboratory cell models and other preclinical systems to see if they restore normal electrical signaling. This work is meant to identify candidate drugs that could move toward trials for patients with these mutations.
Who could benefit from this research
Good fit: People with Keppen-Lubinsky syndrome or with known KCNJ6/GIRK2 mutations who want to donate samples or consider future clinical trials are the most relevant candidates.
Not a fit: Patients whose symptoms are caused by conditions other than GIRK2/KCNJ6 mutations are unlikely to benefit from these specific channel-targeting approaches.
Why it matters
Potential benefit: If successful, this could lead to new medicines that specifically block mutant GIRK2 channels and reduce the neurological problems seen in Keppen-Lubinsky syndrome.
How similar studies have performed: Structural studies of ion channels and targeted drug screens have produced leads for other channel disorders, but specific inhibitors for these KLS-associated GIRK2 mutations have not yet been established.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Slesinger, Paul a — Icahn School of Medicine at Mount Sinai
- Study coordinator: Slesinger, Paul a
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.