Investigating how mitochondrial dysfunction contributes to brain degeneration in children with TBCK mutations
TBCK Encephaloneuronopathy: establishing the role of mitochondrial dysfunction in promoting neurodegeneration
This study is looking at how problems with tiny parts of cells called mitochondria affect children with TBCK gene mutations, especially those with a serious condition that impacts their brain and nervous system, and it aims to find ways to improve their health and well-being.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-10883728 on NIH RePORTER |
What this research studies
This research focuses on understanding the role of mitochondrial dysfunction in children with TBCK gene mutations, particularly those with a severe form known as TBCK-encephaloneuronopathy. The study examines how these mutations lead to neurodegeneration and other neurological issues, including intellectual disabilities and autism. By analyzing patient-derived fibroblasts, the research aims to uncover the biological mechanisms behind these conditions and explore potential therapeutic interventions that could enhance mitochondrial function. The approach includes activating specific signaling pathways to assess their impact on cellular health and function.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with TBCK mutations, particularly those exhibiting severe neurological symptoms.
Not a fit: Patients without TBCK mutations or those with unrelated neurological conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve neurological outcomes for children affected by TBCK mutations.
How similar studies have performed: Previous studies have shown promising results in understanding mitochondrial dysfunction in related conditions, suggesting potential for success in this novel approach.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Ortiz-Gonzalez, Xilma R — Children's Hosp of Philadelphia
- Study coordinator: Ortiz-Gonzalez, Xilma R
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.