Mitochondria and synapse changes linked to schizophrenia in 22q11.2 deletion
Linking mitochondrial and synaptic weakness to schizophrenia
Researchers are comparing energy production and synapse function in lab-grown brain cells from adults with 22q11.2 deletion syndrome who do and do not have schizophrenia to learn why some develop symptoms.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11262887 on NIH RePORTER |
What this research studies
If you have 22q11.2 deletion syndrome, researchers may use a small blood or skin sample to make nerve cells in the lab and measure how well their mitochondria (cell powerhouses) produce ATP and support synapses. They will compare samples from adults with 22q11.2 deletion who have schizophrenia to those who do not, looking for signs of mitochondrial weakness or compensatory changes. The team uses patient-derived induced pluripotent stem cells and established cell lines to study glutamatergic neurons and related molecular signals. Findings may help explain why about a quarter of people with 22q11.2 deletion develop schizophrenia and point to possible targets for future treatments.
Who could benefit from this research
Good fit: Ideal participants are adults (21+ years) with a confirmed 22q11.2 deletion, both those who have schizophrenia and those who do not.
Not a fit: People without a 22q11.2 deletion, children under 21, or those unable to provide samples or travel to the study site are unlikely to be eligible or directly benefit.
Why it matters
Potential benefit: This work could reveal biological reasons some people with 22q11.2 deletion develop schizophrenia and identify targets for new therapies or biomarkers.
How similar studies have performed: Prior lab studies, including work from this team, have found mitochondrial and synaptic differences in patient-derived cells, but applying those findings to treatments is still early and not yet proven.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Anderson, Stewart a — Children's Hosp of Philadelphia
- Study coordinator: Anderson, Stewart a
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.