TITLE:
Mitochondrial Dysfunction in Duchenne Muscular Dystrophy
AUTHORS:
Marie Kelly-Worden, Emily Thomas
KEYWORDS:
Duchene Muscular Dystrophy, Mitochondria, Calcium Homeostasis, Oxidative Stress
JOURNAL NAME:
Open Journal of Endocrine and Metabolic Diseases,
Vol.4 No.8,
August
15,
2014
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 patients. 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 intracellular 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 describe how the relationship between increased intracellular calcium,
mitochondrial permeability and dysfunction culminates in muscle loss.