What is Titin?
- Titin is a very large protein. It’s huge! In fact, titin is the largest protein in the human body.
- The titin protein is located in each of the individual striated muscle cells in our bodies. Muscles need titin in order to work and move .
- In muscle cells, titin is part of the sarcomere, which is responsible for muscles contracting and relaxing.
- Titin is especially responsible for the normal “elasticity” of muscle. After your muscle does the work of contracting, the titin protein helps the muscle to stretch back into the muscle’s resting position.
- Titin also serves as a structural protein to help support the architecture of the muscle cell.
- The gene that creates the titin protein is the TTN (titin gene)
- Changes in the Titin protein may cause muscle weakness as well as heart problems.
- If you have a change in your TTN (titin) gene you will need to discuss with your doctor if and how your variant may affect your health.
What is a Titin Myopathy?
- In medical terms, “Myo” refers to muscle.
- And “-opathy” at the end of a word means that the word describes a medical disease or condition.
- So “myopathy” is a medical illness involving muscles.
- Myopathies result in muscle weakness and muscle fatigue.
- “Titin Myopathy” is a specific category of myopathy where the myopathy (muscle problem) is caused by an abnormality of the Titin protein.
Terminology: “Titin Myopathy” versus “Titinopathy”
- “Titin Myopathy” is sometimes referred to as “Titinopathy.”
- “Titin Myopathy” means it is a muscle disorder (myopathy) due to a problem with the titin protein.
- “Titinopathy” means a medical condition involving a problem with the titin protein. This word does not specify that the problem impairs the muscles.
- Either term can be used, but…
- “Titin Myopathy” is a more descriptive term than “Titinopathy”, since “Titin Myopathy” explicitly lets the reader know that the affected patient is suffering from a muscle (“myo”) problem.
- (For example, most doctors, nurses, and other health professionals would understand that “Titin Myopathy” is a muscle disorder causing weakness, even if they had never heard of it before. Conversely, a health professional first hearing the term “Titinopathy” would probably have no idea what body tissues were involved or what symptoms such a patient might have.)
How severe are Titin Myopathies?
- The severity of titin myopathies (titinopathies) is variable.
- Some patients have milder symptoms while others are much more severely effected.
Contact a Titin Advocate for more information:
Where can I learn more?