Identifying and predicting which forms of titin are involved in cardiomyopathy

The titin myofilament as emerging factor in cardiomyopathy

The heart is made up of many different cell types and proteins that work together to produce every heart beat. One important protein is called titin. There are over 8,000 different versions of the titin gene and some of them don’t work properly, causing heart conditions such as heart failure. This research will help doctors diagnose and treat titin-related heart disease. Dr Olga Mayans and Dr Daniel Rigden have been awarded a three-year grant to study the large protein, which is involved in maintaining the structure of heart cells. Everyone has a slightly different version of titin in their heart muscle. Most versions work perfectly well, but some may not, and large scale genetic studies have shown that people with particular faulty versions of titin develop heart problems such as cardiomyopathy, when the muscle becomes weak. Dr Mayans’ team will study the structure of titin in minute detail to see which parts are central to the correct functioning of heart muscle. This research will help the team identify and predict which forms of titin are related to debilitating heart problems.