Investigating how protein misfolding affects spinal and bulbar muscular atrophy.
The role of the AR interactome in SBMA
This study is looking into how a genetic condition called spinal and bulbar muscular atrophy (SBMA) affects muscles and nerves, using mice and cells to see how changes in a specific protein might cause problems, with the hope that the results could help find new treatments for people with SBMA and similar diseases.
Quick facts
| Grant type | R37 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Thomas Jefferson University NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11088809 on NIH RePORTER |
What this research studies
This research focuses on understanding the mechanisms behind spinal and bulbar muscular atrophy (SBMA), a genetic neuromuscular disease linked to protein misfolding. By using mouse and cell models that mimic the disease, the researchers aim to explore how the androgen receptor, when altered by genetic factors, leads to cellular dysfunction and death. The study examines the role of androgenic ligands in the progression of SBMA, which may provide insights into similar neurodegenerative diseases. Patients may benefit from findings that could lead to new therapeutic strategies targeting these mechanisms.
Who could benefit from this research
Good fit: Ideal candidates for this research include adults diagnosed with spinal and bulbar muscular atrophy or related neurodegenerative conditions.
Not a fit: Patients with neurodegenerative diseases not related to protein misfolding or androgen receptor dysfunction may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for spinal and bulbar muscular atrophy and potentially other related neurodegenerative diseases.
How similar studies have performed: Previous research has shown success in understanding neurodegenerative diseases through similar approaches, particularly in the context of protein misfolding.
Where this research is happening
Philadelphia, United States
- Thomas Jefferson University — Philadelphia, United States (Active)
Researchers
- Principal investigator: Merry, Diane E — Thomas Jefferson University
- Study coordinator: Merry, Diane E
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.