Mitochondria and the brain's protective barrier in 22q11.2 deletion and related autism
Mitochondrial influences on blood brain barrier function and neuropsychiatric illness
Looking at whether boosting cellular energy can strengthen the blood-brain barrier in people with 22q11.2 deletion and related neuropsychiatric conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11224094 on NIH RePORTER |
What this research studies
Researchers are using cells made from patients (iPSC-derived blood-brain barrier–like cells) and mouse models to study how mitochondria affect the brain's protective barrier in 22q11.2 deletion syndrome. They measure mitochondrial energy production and barrier integrity in those cells and in animals. The team tests approaches to improve mitochondrial function to see whether that restores a healthier, less leaky blood-brain barrier. Findings could guide ways to reduce inflammation-linked brain problems in neurodevelopmental conditions.
Who could benefit from this research
Good fit: People with 22q11.2 deletion syndrome, especially those with autism or other neuropsychiatric symptoms, would be the most relevant candidates to provide samples or join future trials.
Not a fit: Patients without 22q11.2 deletion or whose symptoms are unrelated to blood-brain barrier or mitochondrial dysfunction may not benefit from these findings.
Why it matters
Potential benefit: If successful, this work could point to new treatments that reduce brain inflammation and psychiatric symptoms by strengthening the blood-brain barrier.
How similar studies have performed: Previous studies and the investigators' preliminary data show BBB disruption and mitochondrial problems in 22q11.2 deletion, but repairing BBB energetics as a therapy is a new and relatively untested strategy.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Alvarez, Jorge Ivan — University of Pennsylvania
- Study coordinator: Alvarez, Jorge Ivan
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.