RAN proteins in Huntington's disease and spinocerebellar ataxias (like SCA3)
Contribution of RAN proteins to HD, SCA3 other CAG.CTG expansion diseases
This project looks at whether certain proteins made from repeat expansions (RAN proteins) harm brain cells in people with Huntington's disease and some spinocerebellar ataxias and tests ways to block them.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Florida NIH-funded |
| Lab location | 1 site (Gainesville, United States) |
| Project ID | NIH-11379703 on NIH RePORTER |
What this research studies
If I participate, researchers would study RAN proteins that build up in brain tissue in Huntington's disease and several spinocerebellar ataxias. They'll use patient-derived cells reprogrammed into neurons (iPSCs) and mouse models to see if these proteins cause harm. They plan to try gene-delivery (AAV) and small-molecule drugs that target the PKR pathway to lower RAN protein levels. They will look for improvements in cell health and disease signs in mice to guide future patient treatments.
Who could benefit from this research
Good fit: People with genetically confirmed Huntington's disease or polyglutamine spinocerebellar ataxias (for example SCA1, SCA2, SCA3, SCA6, SCA7) who can provide samples or consider future clinical trials would be most relevant.
Not a fit: Patients whose conditions are not caused by CAG·CTG repeat expansions or who cannot provide samples or enroll in future studies are unlikely to directly benefit from this project.
Why it matters
Potential benefit: If successful, this work could lead to new treatments that reduce toxic RAN proteins and slow or prevent neuron damage in people with HD and related SCAs.
How similar studies have performed: Preclinical studies have shown RAN proteins accumulate across expansion diseases and some cell and animal work suggests blocking RAN translation or PKR can reduce toxicity, but human clinical benefit has not yet been shown.
Where this research is happening
Gainesville, United States
- University of Florida — Gainesville, United States (Active)
Researchers
- Principal investigator: Ranum, Laura P.w — University of Florida
- Study coordinator: Ranum, Laura P.w
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.