How ATXN1 affects brain support cells and dementia risk
Official title: Investigation of the role of ATXN1 in oligodendroglia and neurodegenerative diseases
Funded at Yale University · NIH-11251577 · Data updated 2026-11-12
Researchers are finding out whether changes in the ATXN1 gene affect brain support cells called oligodendroglia and raise the risk of Alzheimer’s and related neurodegenerative conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project start | March 1, 2022 |
| Project end | December 31, 2026 |
| Funding year | 2026 |
| Award (this year) | $682,034 |
| NIH project number | 5R01AG076154-05 |
| Project ID | NIH-11251577 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with Alzheimer’s disease, ALS, FTD (including progressive nonfluent aphasia), spinocerebellar ataxia type 1, or known ATXN1 variants—and healthy volunteers for comparison—would be the most relevant candidates for related human studies.
✕Less likely to help
Patients whose conditions are unrelated to ATXN1 biology or who do not have ATXN1-linked changes are unlikely to receive direct benefit from this specific line of research.
What this research studies
This project looks at how different ATXN1 gene changes (including repeat expansions and variants that lower ATXN1 levels) change the behavior and health of oligodendroglia, the brain cells that make myelin and support neurons. Scientists will use laboratory models, cellular experiments, and analysis of human genetic or tissue samples when available to compare normal and altered ATXN1. The team will study links between ATXN1 changes and diseases such as Alzheimer’s, ALS, frontotemporal dementia, and spinocerebellar ataxia to understand disease mechanisms. The goal is to learn whether and how ATXN1 in these support cells contributes to neurodegeneration.
Why it matters
Potential benefit: If successful, this work could identify new biological targets that lead to therapies or tests to slow or prevent Alzheimer’s and other ATXN1-linked neurodegenerative diseases.
How similar studies have gone: Prior studies have linked ATXN1 mutations to SCA1, ALS, FTD, and AD risk, but examining ATXN1’s role in oligodendroglia is a newer and more exploratory approach.
Where this research is happening
-
Yale University
New Haven, United States Active
Researchers
- Principal investigator: Lim, Janghoo — Yale University
- Study coordinator: Lim, Janghoo
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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.