SOD1 A4V Aggregation Assay Cell Line

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of both; upper and lower motoneurons in the brain and the spinal cord. ALS and other neurodegenerative disorders, such as Alzheimer’s and Parkinson’s disease, are characterized by defects in protein processing resulting in protein misfolding, mislocalization and inclusion formation in motor neurons. Classical neuropathological hallmarks of ALS include ubiquitinated inclusions containing the disordered TDP-43 and FUS proteins; although pathology can be heterogeneous with the appearance of other protein aggregates. Mutations in more than forty genes have been reported to associate with ALS. Mutations in the gene encoding superoxide dismutase 1 (SOD1) were the first discovered to cause ALS, and elicit approximately 20% of all familiar ALS cases in the world and up to 50% in China. The alanine to valine mutation at codon 4 (A4V) of SOD1 causes a rapidly progressive dominant form of ALS with exclusively lower motor neuron disease. It is also one of the most common mutations worldwide responsible for 50% of SOD1 mutations associated with familial ALS. Usually, the genes associated with ALS are related with misfolded and aggregated proteins. In the case of SOD1-A4V mutant, it has an increased tendency to aggregate and form aberrant depositions. Misfolded and aggregated SOD1-A4V elicits many toxic properties and has been linked with cell death. SOD1 A4V Aggregation Assay Cell Line is a useful tool to assay compounds to modulate SOD1 tendency to form aggregates.