Investigating how disruptions in mitochondrial fission affect brain development in children
Understanding the effects of mitochondrial fission disruption during early cortical development
This study is looking at how changes in a specific gene called DRP1 might cause serious brain development issues in children, using special cells to see how these changes affect the growth of brain cells, which could help us understand how to support healthy brain development in young kids.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University NIH-funded |
| Lab location | 1 site (Nashville, UNITED STATES) |
| Project ID | NIH-10993574 on NIH RePORTER |
What this research studies
This research explores the impact of mutations in the Dynamin Related Protein 1 (DRP1) gene, which are linked to severe neurodevelopmental disorders in children. By using induced pluripotent stem cells (iPSCs) with these mutations, the study aims to understand how these genetic changes disrupt mitochondrial fission and subsequently affect the differentiation and maturation of cortical neurons. The research will analyze the interactions between DRP1, F-actin, and the endoplasmic reticulum to uncover the mechanisms behind these developmental delays. This approach could provide insights into the cellular processes that are critical for healthy brain development during early childhood.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under 11 years old who have been identified with de novo mutations in the DRP1 gene and exhibit neurodevelopmental delays.
Not a fit: Patients who do not have DRP1 mutations or who are older than 11 years may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for neurodevelopmental disorders caused by mitochondrial dysfunction in children.
How similar studies have performed: While the specific approach of studying DRP1 mutations in relation to cortical development is novel, similar research has shown promising results in understanding mitochondrial dysfunction in other contexts.
Where this research is happening
Nashville, UNITED STATES
- Vanderbilt University — Nashville, United States (Active)
Researchers
- Principal investigator: Baum, Tierney — Vanderbilt University
- Study coordinator: Baum, Tierney
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.