Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs

Muscle disease: understanding different forms of a key muscle protein Contraction and relaxation of both heart and skeletal muscles are regulated by different forms of a protein called MyBP-C, mutations in this protein being important causes of heart and skeletal muscle diseases. Although the cardiac form has been well studied, the two skeletal forms are not well understood. Taejeong Song and Sakthivel Sadayappan at the University of Cincinnati, USA, have reviewed current understanding of the structure and function of MyBP-C proteins, and links between mutations and disease. They report that mutations in the cardiac form are the most common cause of hypertrophic cardiomyopathy, disease of the heart muscle. Mutations in skeletal MyBP-C are associated with muscle diseases such as distal arthrogryposes, contracture hands and feet that stiffens joints and reduces mobility. Further study of MyBP-C function may help in developing gene therapies.