How body‑sensing nerves affect walking in Angelman syndrome
The Role of Sensory Receptors in Angelman Syndrome
This project looks at whether problems with a nerve sensor called PIEZO2 cause balance and walking problems in people with Angelman syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas Hlth Sci Ctr Houston NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-11284016 on NIH RePORTER |
What this research studies
Researchers will use mouse models that mimic Angelman syndrome and examine the sensory neurons that sense limb position and movement. They will measure gait and balance with behavioral tests and record nerve activity to see how PIEZO2 functions. The team will alter PIEZO2 levels in sensory neurons and use imaging and molecular tools to see how those changes affect walking. Results will be related to human genetic evidence to connect the lab findings to people with Angelman syndrome.
Who could benefit from this research
Good fit: People with Angelman syndrome who have balance issues or abnormal gait would be the most relevant candidates for related clinical follow-up or future trials.
Not a fit: People with Angelman syndrome who do not have gait or proprioceptive problems, or whose symptoms are driven mainly by seizures or other unrelated issues, may not benefit directly.
Why it matters
Potential benefit: If successful, this work could point to new treatment targets to improve balance and walking in people with Angelman syndrome.
How similar studies have performed: Loss of PIEZO2 is already linked to proprioception and gait problems in humans and mice, but applying that knowledge specifically to Angelman syndrome is a novel approach.
Where this research is happening
Houston, United States
- University of Texas Hlth Sci Ctr Houston — Houston, United States (Active)
Researchers
- Principal investigator: Cordero-Morales, Julio Francisco — University of Texas Hlth Sci Ctr Houston
- Study coordinator: Cordero-Morales, Julio Francisco
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.