Lou Gehrig's Disease Essay

Lou Gehrig's Disease Essay

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Because awareness of ALS has increased, the need for a cure has been more sought after. There is multiple road blocks, however, in the path to a cure. The lack of early diagnosis is not the only road block. The mutations that occur in amyotrophic lateral sclerosis make researching a cure even more difficult than other diseases. Through the research and testing being conducted, several genes have been identified in many of the familial cases of ALS. One of the most common genes shown to be affected is the mutated superoxide dismutase 1 gene (SOD1) (Chen et al., 2013). SOD1 is a cytoplasmic antioxidant enzyme and contains copper and zinc (OMIM) which aids in the conversion of O2- into H2O2 and O2 (4). The SOD1 gene is located on chromosome 21 with over 150 mutations in all of the five exons, which have been identified showing links to familial ALS (Chen et al., 2013). There are a few frequent mutations being seen in patients with ALS, A4V and G93A (OMIM). It is estimated that 50% of patients of SOD-ALS patients transport the A4V mutation and almost all of these patients live within the United States (OMIM). This shows a genetic and environmental influence on the disease. This mutation is also seen to have a decrease in the survival rate of the patient, typically only surviving 1.4 years after the onset of the disease (OMIM). There have been several hypotheses proposed to determine how the mutated SOD1 gene leads to its toxicity in patients with ALS. Two possible hypotheses are misfolding proteins-associated aggregation and oxidative stress (Chen et al., 2013).
Many researchers are using mouse models to test the toxicity and pathology of the mutated gene. In cases of familial ALS, mutations in SOD1 present dominant as w...


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...urotoxic effects of TDP-32 overexpression in C. elegans. Human Molecular Genetics 19, 3206-3218
Chen, S., Sayana, P., Zhang, X., Le, W. (2013). Genetics of amyotrophic lateral sclerosis: and update. Molecular Neurodegeneration 8, 1-15
Lunn, J.S., Sakowski, S,A., Kim, B., Rosenberg, A.A., Feldman, E.L. (2009). Vascular endothelial growth factor prevents G93A-SOD1 induced motor neuron degeneration. Dev Neurobiology 69, 871-884
Greenberg, D.A., Jin, K. (2004). VEGF and ALS: the luckiest growth factor? Trends in Molecular Medicine 10, 1-3
The Rip Van Winkle Foundation. (2011). Lou Gehrig Accessed 2014 April 10
National Institute of Neurological Disorders and Stroke. (2014). NINDS amyotrophic lateral sclerosis (ALS) information page. Accessed 2014 April 8

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