Investigating a genetic cause of childhood mitochondrial disease
Official title: A cell model of YARS2-associated childhood-onset mitochondrial disease
Funded at Thomas Jefferson University · NIH-10768737 · Data updated 2026-11-12
This study is looking at how changes in a specific gene can lead to childhood mitochondrial diseases, and it aims to help us understand how these changes affect cell function, which could explain symptoms like muscle weakness and high acid levels in the body.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Thomas Jefferson University NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | February 1, 2023 |
| Project end | January 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $84,144 |
| NIH project number | 5R03HD110812-02 |
| Project ID | NIH-10768737 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with mitochondrial diseases, particularly those with known pathogenic variants in the YARS2 gene.
✕Less likely to help
Patients without mitochondrial diseases or those whose conditions are unrelated to the YARS2 gene may not benefit from this research.
What this research studies
This research focuses on understanding how genetic variants in the YARS2 gene, which is responsible for a specific mitochondrial protein synthesis process, contribute to childhood-onset mitochondrial diseases. The researchers will create induced pluripotent stem cells from patients with pathogenic variants to study how these variants disrupt nutrient sensing and cell signaling in cells. By examining these cellular mechanisms, the research aims to uncover the underlying causes of associated symptoms like myopathy and lactic acidosis.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for mitochondrial diseases linked to YARS2 variants.
How similar studies have gone: While the specific approach is novel, similar studies have shown that understanding genetic variants can lead to breakthroughs in treating mitochondrial diseases.
Where this research is happening
-
Thomas Jefferson University
Philadelphia, United States Active
Researchers
- Principal investigator: Hou, Ya-Ming — Thomas Jefferson University
- Study coordinator: Hou, Ya-Ming
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.