A groundbreaking study conducted by scientists at the University Medical Center Göttingen (UMG) has revealed that mutations in the Titin gene (TTN) are a common cause of heart muscle disease. The study, published in the journal Science Translational Medicine, found that mutations in the largest human protein, Titin, often lead to dilated cardiomyopathy (DCM). Normally, Titin is responsible for the elastic movement of muscles, including the heart. However, a mutation in the Titin gene can impair this function and trigger heart muscle disease. The researchers examined over 100 heart tissue samples for their study, with contributions from researchers at the Heart and Diabetes Center Bad Oeynhausen, the German Center for Cardiovascular Research, the Max Delbrück Center for Molecular Medicine in Berlin, and the Technical University of Munich.
According to the project leader, Wolfgang Linke, it was already known that a large proportion of heart muscle diseases are caused by mutations in the Titin protein. However, the study has now discovered the pathomechanisms responsible for the development of heart muscle diseases. In the samples of TTNtv-DCM patients, the researchers found significantly less normal Titin in the heart muscle cells than in healthy individuals and DCM patients without TTNtv. This reduction in Titin leads to a decrease in contractile units, resulting in weakened heart function. The findings of the study are expected to be used to develop new treatment options for heart muscle diseases, such as the use of gene editing tools to modify DNA sequences that cause the mutation.
The study is considered groundbreaking in the field and could pave the way for new treatments for heart muscle diseases. However, the use of gene editing tools for heart muscle diseases is still in the early stages of development and is not yet possible. The researchers hope that their findings will lead to further research and development of new treatments for heart muscle diseases caused by mutations in the Titin gene.
