Does conserved domain SOD1 mutation has any role in ALS severity and therapeutic outcome?

ABSTRACT:

Background

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative fatal disease that can affect the neurons of brain and spinal cord. ALS genetics has identified various genes to be associated with disease pathology. Oxidative stress induced bunina and lewy bodies formation can be regulated through the action of SOD1 protein. Hence, in the present study we aim to analyse the structural and functional annotation of various reported SOD1 variants throughout and their putative correlation with the location of mutation and degree of ALS severity by inferring the structural and functional alterations in different SOD1 variants.

Methods

We have retrieved around 69 SNPs of SOD1 gene from Genecards. Structural annotation of SOD1 variants were performed using SWISS Mo

SUBMITTER: Pal S 

PROVIDER: S-EPMC7547430 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature