Investigating the role of APE1 in Huntington's disease progression
APE1 and Somatic Expansion in Huntington's Disease
This study is looking at how a gene called APE1 might affect when symptoms of Huntington's disease start, with the hope of finding new ways to help manage the condition for people living with it.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Puerto Rico Med Sciences NIH-funded |
| Lab location | 1 site (San Juan, United States) |
| Project ID | NIH-11058359 on NIH RePORTER |
What this research studies
This research focuses on Huntington's disease (HD), a severe neurological condition caused by a mutation in the huntingtin gene. The study aims to understand how the APE1 gene, which is involved in DNA repair, may influence the age at which symptoms of HD appear. By exploring the relationship between APE1 and the expanded CAG repeat in the huntingtin gene, researchers hope to identify additional factors that could delay the onset of HD symptoms. This could lead to new therapeutic strategies for managing the disease.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with a genetic predisposition to Huntington's disease, particularly those with known CAG repeat expansions.
Not a fit: Patients without a genetic link to Huntington's disease or those who are already symptomatic may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new interventions that delay the onset of Huntington's disease symptoms, improving quality of life for patients.
How similar studies have performed: While the role of DNA repair mechanisms in Huntington's disease is being explored, this specific investigation into APE1's influence on disease onset is relatively novel.
Where this research is happening
San Juan, United States
- University of Puerto Rico Med Sciences — San Juan, United States (Active)
Researchers
- Principal investigator: Ayala-Pena, Sylvette — University of Puerto Rico Med Sciences
- Study coordinator: Ayala-Pena, Sylvette
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.