How a dystonia-linked protein affects brain support cells and myelin
Role of DYT6 Dystonia Protein THAP1 in Oligodendroglial Mediated ECM Homeostasis During CNS Development
This project looks at how the THAP1 protein linked to DYT6 dystonia changes the behavior of brain support cells and the surrounding matrix, which could affect myelination in adults with DYT-THAP1.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Case Western Reserve University NIH-funded |
| Lab location | 1 site (Cleveland, United States) |
| Project ID | NIH-11418173 on NIH RePORTER |
What this research studies
Researchers are studying how THAP1 and its partner YY1 control the molecules secreted by oligodendrocyte precursor cells and the makeup of the brain's extracellular matrix. They use lab methods such as ChIP-seq and transcriptomics alongside cell and animal models to see how changes in THAP1 alter chondroitin sulfate molecules that can block myelin formation. The team follows how these molecular changes affect OPC maturation into myelinating oligodendrocytes during CNS development. The goal is to map the pathway by which THAP1 regulates extracellular matrix composition and myelination.
Who could benefit from this research
Good fit: Adults diagnosed with DYT-THAP1 (DYT6) dystonia or people with known THAP1 gene variants are the most directly relevant candidates for related future studies or sample donation.
Not a fit: People with movement disorders not linked to THAP1 or those seeking immediate clinical treatments are unlikely to benefit directly from this basic science-focused grant.
Why it matters
Potential benefit: If successful, this work could identify new targets or strategies to protect or restore myelination for people with DYT-THAP1 (DYT6) dystonia.
How similar studies have performed: Previous work linked THAP1 to developmental myelination, but using THAP1 and YY1 to define how oligodendrocyte precursors shape the extracellular matrix is a relatively new approach.
Where this research is happening
Cleveland, United States
- Case Western Reserve University — Cleveland, United States (Active)
Researchers
- Principal investigator: Yellajoshyula, Dhananjay — Case Western Reserve University
- Study coordinator: Yellajoshyula, Dhananjay
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.