Mitochondrial problems in brain support cells linked to Rett syndrome gene mutations
Investigating mitochondrial dysfunction in human astrocytes with RTT-causing MECP2 mutations
['FUNDING_R01'] · STATE UNIVERSITY NEW YORK STONY BROOK · NIH-11326799
This project looks at how MECP2 mutations change mitochondria in human astrocytes to better understand Rett syndrome and point toward ways to help patients.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | STATE UNIVERSITY NEW YORK STONY BROOK (nih funded) |
| Locations | 1 site (STONY BROOK, UNITED STATES) |
| Trial ID | NIH-11326799 on ClinicalTrials.gov |
What this research studies
Researchers will grow human stem cell–derived astrocytes that carry Rett-causing MECP2 mutations and compare them with healthy astrocytes. They will examine mitochondrial shape, energy production, and responses to stress using molecular tests, imaging, and metabolic assays. The team will analyze gene activity and chromatin features in the mutant cells to link molecular changes to the mitochondrial problems. Findings may include targets or pathways that could be tested in future therapies for people with Rett syndrome.
Who could benefit from this research
Good fit: People with Rett syndrome (caused by MECP2 mutations) or their families who can provide biological samples such as blood or skin for patient-derived stem cell lines would be most relevant to this work.
Not a fit: Individuals without MECP2-related Rett syndrome or those with unrelated neurodevelopmental conditions are unlikely to see direct benefits from this specific project.
Why it matters
Potential benefit: If successful, the work could identify molecular targets to protect or restore mitochondrial and metabolic function in astrocytes, which may lead to new treatment approaches for Rett syndrome.
How similar studies have performed: Previous mouse studies showed that healthy astrocytes can improve some Rett-like features, but applying these findings to human astrocytes and mitochondria is relatively new and still being explored.
Where this research is happening
STONY BROOK, UNITED STATES
- STATE UNIVERSITY NEW YORK STONY BROOK — STONY BROOK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: BALLAS, NURIT — STATE UNIVERSITY NEW YORK STONY BROOK
- Study coordinator: BALLAS, NURIT
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.