How TBCK causes nerve and brain damage in children
Unraveling the Mechanisms of Neurodegeneration in TBCK Encephaloneuronopathy
This research looks at why changes in the TBCK gene lead to nerve and brain damage in some children using patient cells and lab models.
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-11377864 on NIH RePORTER |
What this research studies
If my child has TBCK-related disease, the team will examine cells taken from patients and experiments in the lab to see what goes wrong at the cellular level. They will focus on how TBCK affects RNA transport to axons, local protein production near mitochondria, and mitochondrial quality control. The researchers use patient-derived fibroblasts and other models to trace the chain of events that leads to neuron loss. Their methods aim to identify molecular steps that could later be targeted by treatments.
Who could benefit from this research
Good fit: Children with confirmed TBCK mutations or families of children diagnosed with TBCK encephalopathy would be the most relevant participants or sample donors for this project.
Not a fit: People without TBCK mutations or with unrelated forms of neurodegeneration are unlikely to receive direct benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could reveal why neurons die in TBCK encephalopathy and point to molecular targets for future therapies to slow or prevent neurodegeneration in affected children.
How similar studies have performed: Previous work has shown mitochondrial problems in TBCK patient cells and linked RNA transport defects to axonal health, but the precise TBCK-related mechanism remains novel and unproven.
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.