Muscle problems in Kabuki syndrome
Epigenetic dysregulation of muscle differentiation in Kabuki syndrome
Researchers are looking at how the gene changes that cause Kabuki syndrome lead to weak muscles in people with the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11258998 on NIH RePORTER |
What this research studies
From a patient perspective, the team will use mouse models that carry the same Kabuki syndrome gene changes to see whether muscles themselves are faulty or whether nerves cause the weakness. They will study muscle cells and muscle stem cells (satellite cells) and compare those findings with tissue or cells from people with Kabuki syndrome. The researchers will look at gene activity and how DNA is packaged (epigenetics) to find the molecular reasons for low muscle strength. Findings aim to connect genetic changes to real muscle problems people experience.
Who could benefit from this research
Good fit: People diagnosed with Kabuki syndrome—especially those with known KMT2D or KDM6A mutations and who have muscle weakness or hypotonia, or who can provide muscle or blood samples—would be ideal candidates to contribute.
Not a fit: People without Kabuki syndrome or those whose muscle weakness is caused by unrelated nerve diseases are unlikely to benefit directly from this research.
Why it matters
Potential benefit: If successful, this work could explain why people with Kabuki syndrome have weak muscles and point toward better care strategies or future therapies.
How similar studies have performed: Genetic and epigenetic links to Kabuki syndrome are established, but applying these methods specifically to understand skeletal muscle dysfunction in patients is relatively new and not yet proven.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Gussoni, Emanuela — Boston Children's Hospital
- Study coordinator: Gussoni, Emanuela
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.