How cellular metabolism affects brain development in Down syndrome
Nuclear-Metabolic Interplay in Down syndrome
Researchers are looking at how cell energy use and fat/cholesterol processing affect brain development in people with Down syndrome to find ways to improve neurodevelopment.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project ID | NIH-11324276 on NIH RePORTER |
What this research studies
This project will examine how metabolism inside cells influences the growth and fate of brain precursor cells in Down syndrome. Researchers will use human stem cells turned into neural cells and mouse models to study three pathways: glycolysis (sugar breakdown), lipid and cholesterol metabolism, and histone acetylation (how metabolism affects gene activity). They will measure how these processes change neural progenitor proliferation and differentiation and will test ways to modify metabolic pathways. The goal is to find molecular targets that could lead to therapies to lessen neurodevelopmental problems linked to Down syndrome.
Who could benefit from this research
Good fit: People with Down syndrome (and families interested in future clinical trials or biospecimen donation) would be the population most likely to benefit from follow-up studies based on these findings.
Not a fit: Adults with long-established brain changes or individuals without Down syndrome are less likely to get direct benefit from interventions aimed at early neurodevelopmental processes.
Why it matters
Potential benefit: If successful, the work could identify new targets to improve brain development and reduce cognitive or developmental difficulties in people with Down syndrome.
How similar studies have performed: Prior studies have linked metabolism to brain development, but combining human stem cells and mouse models to target glycolysis, lipid metabolism, and histone acetylation specifically in Down syndrome is relatively novel.
Where this research is happening
La Jolla, United States
- University of California, San Diego — La Jolla, United States (Active)
Researchers
- Principal investigator: Meharena, Hiruy Sibhatu — University of California, San Diego
- Study coordinator: Meharena, Hiruy Sibhatu
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.