Duchenne Muscular Dystrophy Research Paper

The disease Duchenne muscular Dystrophy (DMD) is the most common form of muscular dystrophy (1) in fact 3 out of every 10,000 births will result in a male born with this disorder (2). DMD is a recessive sex linked disorder that can only be passed down to the child if his mother is the carrier (2, 3). Symptoms for DMD are confinement to a wheel chair by the age of 11at the latest and are expected to die in their twenties to forties (2, 4). This is because DMD causes progressive muscle weakness and will reduce muscle tone throughout the body. Muscle weakness will usually begin its onset by the age of three (4). Other symptoms for DMD include pseudohypertrophy (the growth of an organ or a part due to an increase in the amount of other tissue that is fatty

The gene Dystrophin is found on the X chromosome at the location Xp21.2 and codes for the protein duchenne (6, 7). This gene is the largest gene in our genome and corresponds to about 1% of the genome. DMD is made up of 79 exons and it is spread 2.2 million bases long (8-10). Out of the 79 exons 78 of them code for duchenne (6). The duchenne protein protects the outside sheath of a muscle fiber by offering stability, rigidity of muscles, and reinforces the sarcolemma to protect it from other muscle stresses (11). Another function of duchenne is that it is found at the synapses in the central nervous system (CNS) and in the peripheral nervous system (PNS) and it plays a role in learning and memory in the cerebral cortex, hippocampus and the cerebellum. There are several different