How a brain protein complex helps nerve cells form connections and relates to autism
The BAF chromatin remodeling complex in experience-induced neuronal gene transcription and synapse maturation; implications for autism spectrum disorders
['FUNDING_R21'] · UNIVERSITY OF CALIFORNIA, MERCED · NIH-11251937
Researchers are looking at how a brain protein complex called nBAF helps nerve cells turn on genes and form connections, which may be important for children with autism linked to specific gene changes.
Quick facts
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, MERCED (nih funded) |
| Locations | 1 site (MERCED, UNITED STATES) |
| Trial ID | NIH-11251937 on ClinicalTrials.gov |
What this research studies
As a parent, it's helpful to know these scientists will focus on a gene called SMARCC2 and the larger BAF protein complex that genetic studies have linked to autism. They will use lab-grown neurons and animal models to see how this protein helps the cell's gene-copying machinery finish its work and how that affects synapse maturation. The team will study flexible protein regions that let parts of the complex stick together and form functional assemblies in maturing brain cells. Findings aim to explain how certain gene changes can disrupt early brain development.
Who could benefit from this research
Good fit: Children with autism who have known loss-of-function mutations in BAF complex genes (for example SMARCC2 or ARID1A) would be most directly relevant to this work.
Not a fit: People with autism who do not carry mutations in BAF complex genes or those seeking immediate treatment options are unlikely to see direct benefits from this basic lab work.
Why it matters
Potential benefit: If successful, this work could point to specific molecular targets for future therapies that support synapse development in some forms of autism.
How similar studies have performed: Genetic studies have repeatedly linked BAF complex subunits to autism, but mechanistic laboratory work on how these proteins control gene expression and synapse development is still early and largely preclinical.
Where this research is happening
MERCED, UNITED STATES
- UNIVERSITY OF CALIFORNIA, MERCED — MERCED, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SAHA, RAMENDRA N — UNIVERSITY OF CALIFORNIA, MERCED
- Study coordinator: SAHA, RAMENDRA N
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.
Conditions: Autistic Disorder