Understanding how certain proteins cause harm in C9orf72 ALS and FTD
Poly(ADP-ribose) promotes the condensation and toxicity of C9orf72 arginine-rich dipeptide repeat proteins
This work explores how specific proteins, called dipeptide repeat proteins, contribute to the development of ALS and FTD in people with a C9orf72 gene change.
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-10891654 on NIH RePORTER |
What this research studies
We know that a specific genetic change in the C9orf72 gene is the most common cause of ALS and FTD, two serious brain diseases without good treatments. This gene change leads to the production of unusual proteins called dipeptide repeat proteins (DPRs), which build up in the brain cells of affected patients. Our team and others have found that certain DPRs, particularly those rich in arginine, are especially harmful. We are learning how these toxic proteins interact with other important cell components, potentially disrupting vital cell functions and leading to disease.
Who could benefit from this research
Good fit: This basic science work focuses on understanding the disease mechanisms in patients with C9orf72-associated amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Not a fit: Patients without the C9orf72 genetic expansion or those with other forms of neurodegenerative disease may not directly benefit from this specific research focus.
Why it matters
Potential benefit: If successful, this work could reveal new ways to target and stop the harmful effects of these proteins, leading to new treatments for C9orf72-related ALS and FTD.
How similar studies have performed: Other studies have shown that these dipeptide repeat proteins form inclusions in patient brains, and this research builds upon existing knowledge to explore the specific mechanisms of their toxicity.
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.