Understanding how mutations in a specific gene affect brain cells in Rett syndrome
Investigating mitochondrial dysfunction in human astrocytes with RTT-causing MECP2 mutations
This study is looking at how changes in the MECP2 gene affect important brain cells called astrocytes, which help support nerve cells, to better understand the challenges faced by people with Rett syndrome and find new ways to help them.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | State University New York Stony Brook NIH-funded |
| Lab location | 1 site (Stony Brook, United States) |
| Project ID | NIH-11083590 on NIH RePORTER |
What this research studies
This research investigates the impact of mutations in the MECP2 gene on human astrocytes, which are crucial brain cells involved in supporting neurons. By using human stem cell models, the study aims to uncover how these mutations lead to dysfunction in astrocytes, affecting their structure, gene expression, and energy metabolism. The researchers will analyze the differences between human and mouse astrocytes to better understand the unique challenges faced by patients with Rett syndrome. This approach could reveal new insights into the disease mechanisms and potential therapeutic targets.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Rett syndrome, particularly those with MECP2 mutations.
Not a fit: Patients without MECP2 mutations or those with other neurodevelopmental disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with Rett syndrome.
How similar studies have performed: Previous studies using mouse models have shown promise, but this research focuses on human cells, making it a novel approach.
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.