Motor neuron causes of weakness and breathing problems in spinocerebellar ataxia type 1
Investigating Motor Neuron Disease in Spinocerebellar Ataxia, Type1
Seeing if damage to motor neurons explains muscle weakness, trouble breathing and early death in people with spinocerebellar ataxia type 1.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-11169736 on NIH RePORTER |
What this research studies
The team at Baylor will focus on motor neurons to understand why people with SCA1 develop muscle wasting, breathing difficulties, and premature death. They will use lab models that carry the mutant ATXN1 protein and examine motor neuron health, protein aggregates, and molecular signaling linked to neuron loss. The researchers will compare findings from models with available human-derived samples when possible, and measure effects on muscle function and breathing-related tissues. Their goal is to pinpoint mechanisms in motor neurons that differ from the cerebellar problems already studied, to guide future treatments.
Who could benefit from this research
Good fit: People with a confirmed diagnosis of SCA1 (ATXN1 polyglutamine expansion), especially those experiencing muscle weakness, swallowing or breathing problems, or those willing to donate clinical samples, would be most relevant.
Not a fit: People without SCA1 or those with other forms of ataxia or advanced disease unlikely to change outcomes in the near term may not directly benefit from this project.
Why it matters
Potential benefit: If successful, this work could point to new ways to prevent or treat muscle weakness and respiratory failure in SCA1, potentially improving survival and quality of life.
How similar studies have performed: Prior research has identified cerebellar mechanisms in SCA1, but focusing on motor neurons is a newer approach, with some related motor neuron research in other diseases showing promising leads.
Where this research is happening
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Orengo, James P — Baylor College of Medicine
- Study coordinator: Orengo, James P
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.