How DNA damage leads to brain cell loss in ataxia-telangiectasia
Origins of DNA damage driving pathology in human neurodegeneration
['FUNDING_R01'] · UNIVERSITY OF TEXAS AT AUSTIN · NIH-11261242
This project looks at how loss of the ATM protein causes harmful protein clumps and brain damage in people with ataxia-telangiectasia.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF TEXAS AT AUSTIN (nih funded) |
| Locations | 1 site (AUSTIN, UNITED STATES) |
| Trial ID | NIH-11261242 on ClinicalTrials.gov |
What this research studies
From my perspective, researchers are figuring out why missing or broken ATM protein leads to progressive cerebellar degeneration. They work with purified proteins in the lab to see how ATM normally responds to DNA damage and to oxidative stress. They also examine cerebellum tissue from people with A-T to look for protein aggregates and signs of overactive PARP enzymes. The team aims to connect these molecular events to the nerve cell loss that causes ataxia symptoms.
Who could benefit from this research
Good fit: Ideal candidates include people with confirmed ATM mutations (ataxia-telangiectasia) or related A-T-like disorders and families willing to provide clinical information or tissue samples.
Not a fit: People without ATM-related conditions or those seeking an immediate new therapy are unlikely to get direct personal benefit from this mechanistic research.
Why it matters
Potential benefit: If successful, this work could point to ways to stop or reduce protein aggregation and slow neurodegeneration in A-T and related disorders.
How similar studies have performed: Prior laboratory and patient-tissue work has shown ATM loss links to PARP overactivity and protein aggregation, but proving a direct causal chain to neurodegeneration and finding ways to block it is still new.
Where this research is happening
AUSTIN, UNITED STATES
- UNIVERSITY OF TEXAS AT AUSTIN — AUSTIN, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: PAULL, TANYA T — UNIVERSITY OF TEXAS AT AUSTIN
- Study coordinator: PAULL, TANYA T
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.