How the PACS1 R203W mutation affects brain cells and behavior
Molecular, Cellular and Behavioral Impact of the R203W PACS1 Syndrome Mutation
Researchers are looking at how the PACS1 R203W genetic change harms brain cell development and behavior in people with PACS1 syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project ID | NIH-11326677 on NIH RePORTER |
What this research studies
If you or your child has PACS1 syndrome, this project studies how the R203W change in the PACS1 protein alters its behavior inside neurons. The team will use patient-derived cells, biochemical and biophysical tests, and animal models to trace how the mutation changes protein interactions, cell transport, and neuron structure. They are focusing on an increased interaction with HDAC6 and reduced acetylation of key proteins that affect centrosome positioning, Golgi structure, and dendrite branching. Learning these steps may point to ways to reverse the cellular problems and guide future treatments.
Who could benefit from this research
Good fit: People diagnosed with PACS1 syndrome or known to carry the PACS1 R203W mutation would be the most relevant candidates.
Not a fit: People with other causes of autism or without the PACS1 R203W mutation are unlikely to see direct benefit from this work.
Why it matters
Potential benefit: Could identify biological targets and strategies to correct the cellular effects of the mutation, which might lead to therapies for seizures, developmental delays, or autism-related features in PACS1 syndrome.
How similar studies have performed: Prior basic research links HDAC6 and acetylation to neuron development, but applying these findings specifically to the PACS1 R203W mutation is a novel approach with limited direct human testing so far.
Where this research is happening
Pittsburgh, United States
- University of Pittsburgh at Pittsburgh — Pittsburgh, United States (Active)
Researchers
- Principal investigator: Thomas, Gary — University of Pittsburgh at Pittsburgh
- Study coordinator: Thomas, Gary
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.