ABSTRACT

Approximately 10% of Amyotrophic lateral sclerosis/ Motor Neuron Disease (ALS/MND) is inherited of which up to 20% is caused by mutations, (changes) in the superoxide dismutase 1 (SOD1) gene. Detailed bioinformatics study of all the known mutations in the SOD1 gene revealed interesting information. The information about all the experimentally proven mutations in the SOD1 gene was collected and analyzed using bioinformatics tools and software programs. We computationally tried to find out whether the presence of microsatellite plot in the SOD1 gene has any significance in the generation of these mutations. Our analysis revealed that we found 13 microsatellites out of which 7 microsatellites regions have found to be mutated and have fallen inside domain region. The mutation falling in the domain region seems to be inducting a change in the secondary structure and resulting in change or absence of protein function. Thus indicating a positive role of microsatellites in mutagenesis.