Investigating how a genetic mutation affects toxic protein formation in neurodegenerative diseases
Poly(ADP-ribose) promotes the condensation and toxicity of C9orf72 arginine-rich dipeptide repeat proteins
This study is looking at a specific gene change that can cause ALS and frontotemporal dementia to understand how it creates harmful proteins that hurt nerve cells, which could help find new ways to treat these serious conditions.
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-10707931 on NIH RePORTER |
What this research studies
This research focuses on a genetic mutation in the C9orf72 gene, which is linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). It examines how this mutation leads to the production of toxic proteins that can damage nerve cells. By studying these proteins in human tissues and preclinical models, the research aims to uncover the mechanisms behind their toxicity and how they interact with other cellular functions. This could provide insights into potential therapeutic targets for these devastating diseases.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with C9orf72-associated ALS or FTD.
Not a fit: Patients with other forms of ALS or FTD that do not involve the C9orf72 mutation may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that mitigate the effects of ALS and FTD, improving patient outcomes.
How similar studies have performed: Previous research has shown promising results in understanding the mechanisms of toxicity related to similar genetic mutations, indicating a potential for success in this area.
Where this research is happening
Jacksonville, United States
- Mayo Clinic Jacksonville — Jacksonville, United States (Active)
Researchers
- Principal investigator: Zhang, Yongjie — Mayo Clinic Jacksonville
- Study coordinator: Zhang, Yongjie
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.