INTRODUCTION

Duchenne muscular dystrophy (DMD) is one of the most prevalent types of muscular dystrophy and is characterized by rapid progression of muscle degeneration early in life. All of these diseases are X-linked and affect mainly males at a prevalence rate of 1 in 3500 boys worldwide.

The gene for DMD is located on the X chromosome and encodes for the dystrophin protein. Dystrophin is necessary for the structural support of muscle cells and it is thought to strengthen muscle cells by anchoring elements of the cytoskeleton to the surface membrane. Without dystrophin, the cell membrane becomes permeable, so that extracellular components enter the cell, increasing the internal pressure until the muscle cell ruptures and dies. The subsequent immune response can add to the damage.

A mouse model for studying DMD exists and is proving useful for furthering the understanding of both the normal function of dystrophin and the pathology of the disease. In particular, initial experiments that increase the production of utrophin, a dystrophin relative, in order to compensate for the loss of dystrophin in the mouse are promising and may lead to the development of effective therapies for this disease.