Signalling in sarcomeres in development and disease

Sarcomeres are the smallest contractile units of heart and skeletal muscles and are essential for generation and propagation of mechanical force in these striated muscles. During the last decades it has become increasingly clear that components of sarcomeres also play a fundamental role in signal transduction in physiological and pathophysiological conditions. Mutations or misexpression of both sarcomeric contractile and non-contractile proteins have been associated with a variety of cardiac diseases. Moreover, re-expression of foetal sarcomeric proteins or isoforms during cardiac disease can be observed, emphasising the importance of understanding signalling in sarcomeres in both development and disease. The prospective of pharmacological intervention at the level of the sarcomere is now emerging and may lead to novel therapeutic strategies for the treatment of cardiac and skeletal muscle diseases. These aspects will be discussed in this brief review and recent findings, which led to novel insights into the role of the sarcomeric cytoskeleton in muscle development and disease, will be highlighted.