Understanding brain energy in Fragile X Syndrome
FMRP regulation of mitochondria and metabolism in mammalian brain development
This research aims to understand how a specific protein, FMRP, affects brain energy and development in people with Fragile X Syndrome and autism.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Wisconsin-Madison NIH-funded |
| Lab location | 1 site (Madison, United States) |
| Project ID | NIH-11178751 on NIH RePORTER |
What this research studies
Fragile X Syndrome (FXS) is a common cause of intellectual disability and a major contributor to autism spectrum disorders (ASD), caused by a missing FMRP protein. We know that brain cells need a lot of energy, and problems with energy production are linked to brain disorders. This project explores how FMRP affects mitochondria, the 'powerhouses' of brain cells, using both mouse models and human stem cell-derived brain cells. By understanding these basic energy problems, we hope to uncover new ways to help individuals with FXS.
Who could benefit from this research
Good fit: Patients with Fragile X Syndrome or autism spectrum disorders linked to FMRP dysfunction could potentially benefit from future treatments developed from this foundational understanding.
Not a fit: Patients whose conditions are not related to Fragile X Syndrome or FMRP function may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to new ways to understand and potentially treat the brain development and energy issues seen in Fragile X Syndrome and related autism spectrum disorders.
How similar studies have performed: Our team has previously shown FMRP deficiency leads to mitochondrial problems in mouse neurons, and other studies also point to energy issues in human Fragile X neurons.
Where this research is happening
Madison, United States
- University of Wisconsin-Madison — Madison, United States (Active)
Researchers
- Principal investigator: Zhao, Xinyu — University of Wisconsin-Madison
- Study coordinator: Zhao, Xinyu
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.