Understanding how a specific genetic variant affects Alzheimer's disease and related disorders
Mechanistic insights into the link between the A152T risk variant and tauopathy
This study is looking at a specific genetic change in the tau gene that may increase the risk of Alzheimer's and similar brain diseases, and it's for people interested in understanding how this change affects the tau protein in the brain, with hopes of finding new ways to help those at risk.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Mayo Clinic Jacksonville NIH-funded |
| Lab location | 1 site (Jacksonville, United States) |
| Project ID | NIH-10814941 on NIH RePORTER |
What this research studies
This research investigates the A152T genetic variant in the tau gene, which is linked to an increased risk of Alzheimer's disease and other tauopathies. By examining how this variant influences tau protein behavior, the study aims to uncover mechanisms that could lead to new treatment strategies. Researchers are generating novel antibodies to analyze the phosphorylation of tau in brain tissues and animal models, focusing on how these changes may contribute to neurodegeneration. The goal is to identify ways to enhance resilience against tau toxicity and modify disease progression in affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with the A152T variant of the tau gene who are at risk for Alzheimer's disease or other tauopathies.
Not a fit: Patients without the A152T variant or those with other forms of dementia unrelated to tauopathies may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies that improve outcomes for patients with Alzheimer's disease and related disorders.
How similar studies have performed: Previous research has shown promising results in understanding tauopathies, but the specific focus on the A152T variant represents a novel approach.
Where this research is happening
Jacksonville, United States
- Mayo Clinic Jacksonville — Jacksonville, United States (Active)
Researchers
- Principal investigator: Cook, Casey N — Mayo Clinic Jacksonville
- Study coordinator: Cook, Casey N
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.