Analysis of the full coding sequence of the SOD1 gene - first stage of amyotrophic lateral sclerosis diagnostics

This study is related to the analysis of the full coding sequence of the SOD1 gene and the diagnosis of amyotrophic lateral sclerosis Amyotrophic lateral sclerosis (ALS) is a progressive disease neurodegenerative disease that attacks motor neurons, which are specialized nerve cells that control muscle movement At least 200 mutations in the SOD1 gene have been found to cause amyotrophic lateral sclerosis (ALS), a condition characterized by progressive muscle weakness, loss of muscle mass and the inability to control movement. Most of these mutations alter one of the protein building blocks (amino acids) in the enzyme superoxide dismutase superoxide dismutase. ALS is caused by the death (atrophy) of cells nerve cells that control muscle movement (motor neurons). Under influenced by mutations in the SOD1 gene, the altered enzyme can cause an increase in harmful superoxide radicals, increased production of other types of toxic radicals, increased cell death or the accumulation of clumps (aggregates) of abnormally folded superoxide dismutase, which can be toxic to cells.