How many people in the world have titin gene mutation?

But a mutation in the TTN gene (which makes the titin protein) can cause the heart to fail because it causes the heart muscle to become weakened and enlarged, meaning it can’t pump blood around the body efficiently. This condition is known as dilated cardiomyopathy, and it affects about 1 in 250 people worldwide.

What does titin do in muscles?

Titin is a huge, 4.2 MDa, filamentous protein located in the sarcomere of striated muscle. Extending from its N-terminus anchored in the Z-disc to its C-terminus bound to thick filaments in the M-band, titin is largely responsible for the passive stiffness of the myocardium exhibited during diastolic filling.

Does everyone have the TTN gene?

Everyone has two copies of the TTN gene, one is inherited from the mother, the other one from the father.

What chromosome does titin occur in?

The human gene encoding for titin is located on the long arm of chromosome 2 and contains 363 exons, which together code for 38,138 residues (4200 kDa).

What happens if you have a mutation in the titin gene?

“That may change. For example, if we find that the combination of a mutation in titin and a mutation in another gene causes people to get the disease, then we’d recommend genetic testing for both of the variants. But right now we still don’t know enough.”

What kind of mutations are found in TTN?

In a study published February 16, 2012, in The New England Journal of Medicine, Seidman and her colleagues sequenced the gene TTN, which codes for titin, in 312 people with dilated cardiomyopathy. They found 72 mutations that made incomplete forms of titin.

What is the role of titin in the body?

Titin also contains a spring-like region that allows muscles to stretch. Additionally, researchers have found that titin plays a role in chemical signaling and in assembling new sarcomeres.

How are different isoforms of titin made in muscle cells?

Slightly different versions (called isoforms) of titin are made in different muscles. Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract.