Understanding how certain genetic repeats cause neurodegenerative diseases
Deciphering the structural basis of repeat-associated non-AUG (RAN) translation in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
This study is looking into how a specific genetic change in the C9orf72 gene causes harmful proteins to form, which are linked to ALS and Frontotemporal Dementia, and it aims to understand how this happens in nerve cells to help find better ways to tackle these conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-11024129 on NIH RePORTER |
What this research studies
This research investigates the mechanism by which a specific genetic repeat in the C9orf72 gene leads to the production of toxic proteins associated with Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). By using advanced techniques like cryo-electron microscopy, the study aims to uncover how these genetic repeats interact with the ribosome, the cellular machinery responsible for protein synthesis. The research will also explore the role of various protein factors that may influence this process in neurons, potentially revealing new insights into the initiation of translation for these harmful proteins.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Amyotrophic Lateral Sclerosis or Frontotemporal Dementia, particularly those with genetic mutations in the C9orf72 gene.
Not a fit: Patients with other forms of neurodegenerative diseases that do not involve the C9orf72 gene may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for ALS and FTD by targeting the mechanisms that produce toxic proteins.
How similar studies have performed: Previous research has shown promising results in understanding similar mechanisms of protein synthesis and neurodegeneration, indicating that this approach may yield valuable insights.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Brito Querido, Jailson — University of Michigan at Ann Arbor
- Study coordinator: Brito Querido, Jailson
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.