Lou Gehrig's Disease Essay

1354 Words 6 Pages
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 …show more content…
Gidalevitz et al. (2009) created a Caenorhabditis elegans model to collectively examine the genetic and behavioral aspects of the SOD1 mutation. Their focus was to determine toxicity of SOD1 aggregation. In doing this they expressed the mutated SOD1 proteins which are found in the walls of muscle cells (Gidalevitz et al., 2009). After extensive research into three mutated protein involved with SOD1 it was found that each SOD1 exerted some extent of toxicity (Gidalevitz et al., 2009). Destabilizing the different forms of these phenotypes showed to direct different toxicities of mutant SOD1 proteins (Gidalevitz et al., 2009). The specific toxic phenotypes of diseases may not be directly caused by misfolding toxicity of the mutant SOD1 proteins. It has been shown to be affected by the genetic communications of cellular pathways producing slightly destabilizing point mutations in the specific alleles (Gidalevitz et al., 2009). Neurodegenerative diseases similar to ALS have been associated with protein misfolding, causing aggregation of the proteins within neurons (Wang et al., 2009). Wang et al. (2009) wanted to understand the toxic effects exhibited by misfolded proteins such as SOD1 (Wang et al., 2009). It is poorly understood how the misfolding of SOD1 causes toxic effects on motor neuron such as those involved with patients diagnosed with ALS

Related Documents