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 …show more content…
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
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927 Words | 4 PagesDuchenne Muscular Dystrophy is a disorder that is both mentally and physically challenging. Duchenne Syndrome is caused by the mutation of a gene on the X-chromosome. A muscle protein, dystrophin, is affected by this mutation. The damaged gene cannot make enough dystrophin to work right, so it will result in DMD. Dystrophin is a protein that is associated with muscles in the heart, bones, and some in the nerve
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1203 Words | 5 PagesThe results fitted nicely with the author’s hypothesis, showing PGC-1α gene transfer was able to control and enhance dystrophin-deficient muscle functioning. Despite successful results, the authors have noted contradicting findings such as increased inflammation in the treated limbs. Little explanation was given as to why and whether it could affect the muscle in the long run, so more elaboration is needed. Overall, the study was well-designed with results to support the hypothesis of this potential treatment for DMD to mitigate symptoms and restore muscle
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