At Team Titin, our mission is to accelerate research while supporting the families and individuals living with titin-related muscle and heart conditions. We are pleased to announce continued funding of research led by genetic counselor and researcher Jennifer Roggenbuck, MS, CGC at Ohio State University focused on better understanding autosomal dominant titinopathies.
Changes (variants) in the TTN gene, which provides instructions for making the important muscle protein titin, are a leading genetic cause of dilated cardiomyopathy – a condition that affects how well the heart pumps blood. Researchers are learning that some people with these TTN variants may also experience mild but progressive skeletal muscle weakness that has historically been under-recognized.
This research is exploring why certain TTN variants may affect both heart and skeletal muscle. The team, along with collaborators at The University of Arizona, is studying how these variants may lead to disease, including whether they reduce the body’s ability to clear faulty genetic messages and whether shortened forms of the titin protein may interfere with normal muscle function. The project also focuses on HMERF (Hereditary Myopathy with Early Respiratory Failure), another titin-related condition, to better understand how it develops.
Why this matters for families:
- Improved understanding of disease mechanisms can lead to better diagnosis and monitoring
- It may help explain symptoms that families have experienced but that were not always fully recognized
- Most importantly, it lays the groundwork for future treatments and care strategies
If you are an affected individual with a TTN variant and are interested in enrolling please contact Jennifer Roggenbuck at Jennifer.Roggenbuck@osumc.edu.
We are grateful to everyone in the titin community who supports research through participation, advocacy, and shared lived experience. Progress happens because of you. Team Titin remains committed to advancing Connection, Advocacy, Care, and Research and to ensuring families are never alone on this journey.
Stay tuned for updates as this important work continues.
