How a protein in brain immune cells (MEF2C) shapes early brain wiring and autism
The Contribution of Microglial MEF2C to Brain Development
This project looks at whether the protein MEF2C in brain immune cells (microglia) changes how the brain wires itself and contributes to autism and intellectual disability, especially in children with MEF2C changes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project ID | NIH-11249989 on NIH RePORTER |
What this research studies
Researchers will study MEF2C in microglia using lab-grown human cells and animal models to see how it affects synapse pruning and retention during development. They will compare microglial MEF2C activity across ages and in models of MEF2C haploinsufficiency to link molecular changes to brain wiring. The team will use both in vitro experiments and in vivo approaches to observe effects on neural connections and behavior. Findings will be compared to human data to connect the laboratory results to the symptoms seen in MEF2C-related autism.
Who could benefit from this research
Good fit: Ideal candidates for any future human participation would be children or adults with MEF2C haploinsufficiency or autism spectrum disorder, and families willing to donate samples or join clinical follow-up.
Not a fit: People with autism who do not have MEF2C genetic changes may not receive direct benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could point to new biological targets that might lead to treatments reducing social, communication, or cognitive difficulties in people with MEF2C-related autism.
How similar studies have performed: Microglia have been implicated in brain development in prior studies, but directly targeting MEF2C in microglia is a relatively new and unproven approach.
Where this research is happening
La Jolla, United States
- University of California, San Diego — La Jolla, United States (Active)
Researchers
- Principal investigator: Coufal, Nicole Gabriele — University of California, San Diego
- Study coordinator: Coufal, Nicole Gabriele
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.