Duchenne Muscular Dystrophy Essay

1157 words - 5 pages

Duchenne Muscular Dystrophy

Located on the X chromosome lies a gene whose improper function would take from us what we often sloppily overlook -- our mobility. The freedom to dance with poise, to run with agility, to dress one’s self, to bend over and scoop a dropped pencil off the floor are all motions which are only dreamt of by those with Duchenne Muscular Dystrophy. An X-linked recessive disorder which can be exhibited in both males and females, DMD is most prominent in males, affecting 3500 boys in the world (McKusick). DMD affects muscle -- skeletal, smooth, and cardiac -- by causing degeneration (McKusick). Diagnosis occurs around five years old, and by age ten, a wheelchair is ...view middle of the document...

Sixty percent of patients with DMD have a dystrophin gene which holds a deletion (Bulman et al. 457). Another six to ten percent of patients have a dystrophin gene which contains a duplication of one or more exons (Bulman et al. 457). Along with these mutations, other mapping techniques have been used to distinguish further disruptions in the dystrophin gene which seem to cause DMD. Western blotting techniques have been used to identify nonsense mutations on the dystrophin gene (Bulman et al. 458). Polymerase chain sequencing has been used to find a mutation in exon 26 (Bulman et al. 458). Southern analysis revealed that another gene problem which leads to DMD is a premature chain termination, which results in a truncated dystrophin protein (Clemens et al. 1781). These are all mutations found in patients with DMD, which shows that there are various ways the dystrophin gene can be affected. Each of these mutations cause a problem in that they do not function correctly when coding for the protein dystrophin.

The malfunction of the protein dystrophin is responsible for the symptoms of DMD. If the dystrophin gene functions correctly, the normal allele codes for the production of the protein dystrophin (“NCBI”). This is a high molecular weight protein, and it is in .002% of the total proteins. Normally, the dystrophin protein functions inside muscle cells, providing structural support. It anchors parts of the internal cytoskeleton to the surface membrance (“NCBI”). Without dystrophin’s proper functioning, the cell membrane becomes permeable, allowing extracellular components to enter the cell (“NCBI”). This causes pressure to increase until the muscle cell explodes (“NCBI”).

With technology and knowledge of the gene mutation and protein malfunction which causes DMD, the future of the disease continues to grow with possibilities. Treatment techniques for DMD have been expanding as more information about how dystrophin gene mutations occur comes into knowledge. One study examined the possibility of using myoblast transfers as dystrophin replacements (Mendell et al. 832). This procedure involves injecting donor cells which could fuse with muscle fibers and, therefore, replace the missing gene (Mendell et al. 832). The data from this idea showed few positive results. Although some muscle fibers contained dystrophin, no donor DNA or RNA was found (Mendell et al. 836). There was no improved muscle strength (Mendell et al. 837). Other possibilities for treatment involve producing utrophin, a similar protein, to compensate for the...

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