Dissecting the molecular basis of SEPN1-related-myopathies

Proteins are involved in almost every body process and also act as catalysts to accelerate the multitude of chemical reactions that occur within cells, such as the reactions that extract energy from food. In order to perform these functions, proteins need to have a three-dimensional shape that suits their role, and the process of forming this shape is called protein folding. The formation of the correct shape of many proteins requires the assistance of other proteins to act as catalysts or create an environment conducive to folding. Many diseases are due to incorrectly folded proteins, which are consequently unable to carry out their biological tasks. We hypothesise the involvement of SEPN1, the protein responsible for rigid spine muscular dystrophy and other myopathies, in the process of folding. The aim of this study is to reveal the underlying mechanisms by which SEPN1 orchestrates protein folding, and why this mechanism is fundamentally important for muscle physiology. Finally, we hope that this process can be manipulated in order to treat SEPN1-related myopathies. In this regard, our recent findings suggest evaluating the therapeutic use of vitamin C.