Amyotrophic Lateral Sclerosis: An Exploration into the SOD1 Protein and a Representative Case Study

Abstract

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the continual deterioration of upper and lower motor neurons, which invariably leads to death. Like other complex diseases, no particular cause can be attributed to the great majority of ALS cases. Clear pathological mechanisms have not been elucidated, but current research is making headway into understanding superoxide dismutase 1 (SOD1), an important antioxidant that is heavily implicated in the pathogenesis of familial ALS. The goals of this thesis are to help understand the molecular basis of SOD1 in relation to ALS and to demonstrate the dire need for a greater understanding of this unrelenting disease. This paper contains a general review of ALS disease, followed by a molecular exploration of the SOD1 gene. Finally, a representative case study is included at the end to highlight the disease from a clinical perspective.