Faulty sodium–potassium pump in ATP1A3-related brain disorders
Cellular Pathophysiology of Neuronal Na/K-ATPase Dysfunction
This work looks at how faulty sodium–potassium pumps in nerve cells from people with ATP1A3 mutations cause sudden attacks like alternating hemiplegia and longer-term brain problems.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project ID | NIH-11318950 on NIH RePORTER |
What this research studies
Researchers grow nerve cells from patients' own induced pluripotent stem cells (iPSCs) to model ATP1A3 mutations in the lab. They will measure sodium–potassium pump current directly in these human neurons to see whether mutations reduce pump number (haploinsufficiency) or poison normal pumps (dominant-negative effects). The team will link the resulting ion imbalances to short-term attacks (weakness, dystonia) and to long-term neuron loss and developmental delay. Findings could point to targets for future treatments or biomarkers to track disease.
Who could benefit from this research
Good fit: People with confirmed ATP1A3 gene mutations—such as Alternating Hemiplegia of Childhood—or related early-onset epilepsy, dystonia, or migraine are the most relevant candidates for sample donation or future trials.
Not a fit: People without ATP1A3 mutations or with unrelated neurological conditions are unlikely to benefit directly from this research in the near term.
Why it matters
Potential benefit: If successful, this work could identify specific biological targets that lead to new treatments or tests for people with ATP1A3-related disorders.
How similar studies have performed: Previous studies using patient-derived iPSC neurons have revealed disease-related changes, but direct measurement of neuronal Na/K pump currents in human cells is a newer approach that could provide novel insights.
Where this research is happening
Chicago, United States
- Northwestern University — Chicago, United States (Active)
Researchers
- Principal investigator: George, Alfred L. — Northwestern University
- Study coordinator: George, Alfred 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.