Understanding a specific genetic cause of mitochondrial brain disease
Determination of pathogenetic mechanisms in cortex-specific Sucla2 deficiency as a model for mitochondrial encephalopathy
This work explores how a problem with the Sucla2 gene leads to a type of mitochondrial brain disease, hoping to find new ways to help people with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Indiana University Indianapolis NIH-funded |
| Lab location | 1 site (Indianapolis, United States) |
| Project ID | NIH-11092850 on NIH RePORTER |
What this research studies
Mitochondrial encephalopathy is a group of diseases that affect the brain and muscles, often causing intellectual and developmental challenges. This particular project focuses on a specific cause: a problem with the Sucla2 gene, which is important for how our cells make energy. Researchers are using special animal models to understand how this gene deficiency impacts brain function, learning, and memory. By looking at how energy metabolism and protein changes are affected, they aim to uncover the exact mechanisms behind the disease. This deeper understanding could pave the way for new treatments.
Who could benefit from this research
Good fit: This foundational research is relevant to patients diagnosed with mitochondrial encephalopathy, particularly those with known or suspected Sucla2 gene deficiencies.
Not a fit: Patients with mitochondrial diseases not linked to Sucla2 deficiency or those seeking immediate treatment options may not directly benefit from this early-stage research.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of mitochondrial encephalopathy caused by Sucla2 deficiency, potentially identifying new targets for future therapies.
How similar studies have performed: Previous studies have shown that Sucla2 deficiency has severe effects on energy metabolism, providing a strong basis for this continued investigation into its specific mechanisms.
Where this research is happening
Indianapolis, United States
- Indiana University Indianapolis — Indianapolis, United States (Active)
Researchers
- Principal investigator: Graham, Brett Harrison — Indiana University Indianapolis
- Study coordinator: Graham, Brett Harrison
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.