Understanding TMEM63B Channelopathy in Human Diseases
Deciphering mechanobiology in human diseases by developing a TMEM63B channelopathy mouse model
This research creates a special mouse model to better understand how changes in a protein called TMEM63B contribute to human conditions like epilepsy, intellectual disabilities, and blood cell disorders.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Duke University NIH-funded |
| Lab location | 1 site (Durham, United States) |
| Project ID | NIH-11180439 on NIH RePORTER |
What this research studies
Our cells constantly sense and respond to changes in their environment, like pressure and fluid balance, using special channels. When a specific channel called TMEM63B has a particular change, known as the V44M mutation, it can lead to a range of human health issues. This mutation not only changes how the channel works but also gives it a new ability to move fats across cell membranes. We are developing a specialized mouse model with this exact human mutation to learn more about how it causes these diverse symptoms in living systems.
Who could benefit from this research
Good fit: This foundational research is not directly recruiting patients but focuses on understanding the underlying causes of conditions linked to the TMEM63B V44M mutation.
Not a fit: Patients not affected by conditions related to the TMEM63B V44M mutation would not directly benefit from this specific research.
Why it matters
Potential benefit: This work could lead to a deeper understanding of the TMEM63B channelopathy, potentially paving the way for new treatments for associated conditions like epilepsy, intellectual disabilities, and blood cell disorders.
How similar studies have performed: While the role of mechanosensitive ion channels is a growing field, this specific mutation and its lipid scrambling function represent a novel area of investigation.
Where this research is happening
Durham, United States
- Duke University — Durham, United States (Active)
Researchers
- Principal investigator: Yang, Huanghe — Duke University
- Study coordinator: Yang, Huanghe
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.