Investigating how specific mutations in the LIS1 gene affect dynein function in neurological diseases.
Using LIS1 missense mutations to probe dynein regulatory mechanisms
This study is looking at how changes in the LIS1 gene might affect the severity of neurological diseases like Alzheimer's and ALS, helping us understand why some patients with these gene changes experience different symptoms.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of South Carolina at Columbia NIH-funded |
| Lab location | 1 site (Columbia, United States) |
| Project ID | NIH-10544530 on NIH RePORTER |
What this research studies
This research focuses on understanding how mutations in the LIS1 gene, which regulates the dynein motor protein, can influence the severity of neurological diseases such as Alzheimer's and ALS. By examining specific missense mutations, the study aims to uncover how these changes affect dynein interactions and cellular processes in the nervous system. Patients with these mutations may have varying disease outcomes, and the research will explore these differences to better understand the underlying mechanisms. The approach includes biological assays and genetic analysis to assess the impact of these mutations.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Alzheimer's disease, ALS, or those with known LIS1 mutations.
Not a fit: Patients without any genetic mutations related to LIS1 or those with unrelated neurological conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potentially new therapeutic strategies for patients with Alzheimer's disease and ALS.
How similar studies have performed: Previous research has shown that understanding genetic mutations in neurological diseases can lead to significant advancements in treatment, indicating potential success for this approach.
Where this research is happening
Columbia, United States
- University of South Carolina at Columbia — Columbia, United States (Active)
Researchers
- Principal investigator: Smith, Deanna S — University of South Carolina at Columbia
- Study coordinator: Smith, Deanna S
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.