How Ataxia Telangiectasia harms the cerebellum
Defining cerebellar pathophysiology in Ataxia Telangiectasia
Researchers are looking at whether losing two DNA-repair proteins causes the cerebellum damage that leads to ataxia in children and young adults with Ataxia Telangiectasia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center NIH-funded |
| Lab location | 1 site (Torrance, United States) |
| Project ID | NIH-11262941 on NIH RePORTER |
What this research studies
From my perspective as a patient or family member, the team uses a new mouse model that lacks both the ATM and aprataxin (APTX) genes to recreate the severe balance and coordination problems seen in A-T. They follow how these mice develop progressive ataxia, examine cell loss in the cerebellum—especially Purkinje neurons—and measure changes in gene activity and electrical signaling. By comparing the double-knockout mice to single-gene knockouts, the researchers aim to link specific molecular and cellular changes to the movement problems. The goal is to point to molecules and pathways that could become targets for future treatments to protect the cerebellum.
Who could benefit from this research
Good fit: This research is most relevant to children and young adults diagnosed with Ataxia Telangiectasia and their families.
Not a fit: People with other forms of ataxia or unrelated neurologic conditions are unlikely to benefit directly from these findings.
Why it matters
Potential benefit: If successful, this work could reveal why cerebellar cells die in A-T and identify targets that lead to therapies to slow or stop ataxia.
How similar studies have performed: Previous ATM-only mouse models failed to develop clinical ataxia, so the ATM+APTX double knockout is a novel approach that has produced a matching ataxic mouse phenotype.
Where this research is happening
Torrance, United States
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center — Torrance, United States (Active)
Researchers
- Principal investigator: Mathews, Paul James — Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
- Study coordinator: Mathews, Paul James
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.