Mitochondrial Dysfunction in Duchenne Muscular Dystrophy

Abstract

Muscular Dystrophy (MD) is an X-linked recessive disease affecting mainly boys at a rate of 1 in every 3500 live births. The most common and severe form of the disease is Duchenne Muscular Dystrophy (DMD). The disease is characterized by a relatively rapid wasting of skeletal muscle tissue to a point that leads to paralysis in all patients that suffer from the disease. Unfortunately, due to respiratory or cardiac muscle failure, death occurs in most patients around the age of 30. Currently, the lack of the protein dystrophin is thought to be the chief cause of disease in DMD pa-tients. In addition to a lack of dystrophin, studies are emerging that are painting a picture of a more intricate connection between mitochondrial dysfunction and DMD where increased intra-cellular and inter-mitochondrial calcium has been shown to cause mitochondrial swelling, loss of mitochondrial membrane integrity, cell death and muscle atrophy. In this article, we will discuss the evidence that places the mitochondrion as a central participant in the etiology of DMD and de-scribe how the relationship between increased intracellular calcium, mitochondrial permeability and dysfunction culminates in muscle loss.