How tiny sodium–proton pumps inside cells work and why they matter for autism and some cancers
Mechanism and function of intracellular sodium-proton exchangers
Researchers are using a new glowing sensor to watch how sodium and acid move inside cell compartments because changes in these tiny pumps are linked to some forms of autism, intellectual disability, and certain brain and gut cancers.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11180464 on NIH RePORTER |
What this research studies
From a patient's point of view, scientists at Johns Hopkins will use a novel fluorescent reporter that lights up both sodium and proton levels to watch how intracellular sodium–proton exchangers (like NHE6 and NHE9) work inside cell compartments. The team will target this reporter to specific organelles and image two ions at once to clarify the direction and magnitude of transport and how disease-linked genetic variants change function. The project brings together three labs with complementary skills to combine imaging, biochemical assays, and genetic analysis. Results will help link specific mutations to cellular effects that are thought to underlie symptoms in autism and growth of certain tumors.
Who could benefit from this research
Good fit: People who carry known genetic variants in NHE6 or NHE9, or patients with forms of autism, intellectual disability, or brain/gut cancers suspected to involve these exchangers, would be most relevant to this research.
Not a fit: Patients whose conditions are unrelated to intracellular sodium–proton exchangers or who need an immediate treatment are unlikely to get direct benefit from this basic laboratory work.
Why it matters
Potential benefit: If successful, this work could reveal how specific gene changes disrupt cell compartment chemistry and point to new drug targets or diagnostic markers for some autism-related disorders and certain brain/gut cancers.
How similar studies have performed: Work on cell-surface NHE proteins has led to successful drugs and clear mechanisms, but studies of organelle NHEs are much newer and this two-ion imaging approach is a relatively novel tool.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Rao, Rajini — Johns Hopkins University
- Study coordinator: Rao, Rajini
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.