Investigating mutations in a protein linked to muscle weakness and tremors
Official title: Novel MYBPC1 mutations cosegregate with a myopathy associated with muscle weakness, hypotonia and tremor
Funded at University of Maryland Baltimore · NIH-10908598 · Data updated 2026-11-12
This study is looking at how changes in a specific protein called Myosin Binding Protein-C can lead to muscle problems like weakness and tremors, and it aims to help patients by figuring out how these changes affect muscle function and finding new ways to treat these issues.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Maryland Baltimore NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | September 1, 2020 |
| Project end | August 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $399,601 |
| NIH project number | 5R01AR076373-05 |
| Project ID | NIH-10908598 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for participation are individuals under 21 years old with symptoms of muscle weakness, hypotonia, or tremors potentially linked to MYBPC1 mutations.
✕Less likely to help
Patients with muscle conditions not associated with MYBPC1 mutations may not benefit from this research.
What this research studies
This research focuses on understanding the role of Myosin Binding Protein-C (MyBP-C) mutations in causing muscle-related conditions such as weakness, hypotonia, and tremor. The study examines how these mutations affect the protein's ability to interact with muscle fibers and regulate muscle contraction. By analyzing various splicing variants of the MYBPC1 gene, researchers aim to uncover the mechanisms behind muscle dysfunction and identify potential therapeutic targets. Patients may be involved in genetic testing and assessments to better understand their specific conditions.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for patients with muscle weakness and related disorders.
How similar studies have gone: Previous research has shown promising results in understanding the role of MyBP-C in muscle diseases, indicating that this approach has potential for success.
Where this research is happening
-
University of Maryland Baltimore
Baltimore, United States Active
Researchers
- Principal investigator: Kontrogianni-Konstantopoulos, Aikaterini — University of Maryland Baltimore
- Study coordinator: Kontrogianni-Konstantopoulos, Aikaterini
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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.