Understanding a protein linked to a neurological disorder affecting movement
Defining Human Cytochrome P450 7B1 Structure and Function to Understand Spastic Paraplegia Type 5 Disease
This study is looking at a protein that affects cholesterol levels and is important for people with spastic paraplegia type 5 (SPG5), to understand how changes in this protein can lead to the symptoms they experience, with the hope of finding better treatments for them.
Quick facts
| Grant type | Fellowship 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-11069674 on NIH RePORTER |
What this research studies
This research investigates the human cytochrome P450 7B1 protein, which plays a crucial role in cholesterol metabolism and is linked to spastic paraplegia type 5 (SPG5). The study aims to understand how mutations in this protein lead to the accumulation of certain cholesterol derivatives, contributing to the neurological symptoms experienced by SPG5 patients. By determining the structure of the protein and how it interacts with its substrates, researchers hope to uncover the functional defects caused by these mutations. This foundational knowledge could pave the way for developing targeted therapies for SPG5.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with spastic paraplegia type 5 due to mutations in the CYP7B1 gene.
Not a fit: Patients with spastic paraplegia type 5 who do not have mutations in the CYP7B1 gene may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients suffering from spastic paraplegia type 5, potentially improving their quality of life.
How similar studies have performed: While the specific approach of this research is novel, similar studies investigating the role of cytochrome P450 enzymes in neurological disorders have shown promise.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Chabez, Alexandria Anastasia — University of Michigan at Ann Arbor
- Study coordinator: Chabez, Alexandria Anastasia
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.