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SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity
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Journal Article
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity
2022
Overview
Mutations in superoxide dismutase 1 gene (
SOD1
) are linked to amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder predominantly affecting upper and lower motor neurons. The clinical phenotype of ALS shows inter- and intrafamilial heterogeneity. The aim of the study was to analyze the relations between individual
SOD1
mutations and the clinical presentation using in silico methods to assess the
SOD1
mutations severity. We identified
SOD1
causative variants in a group of 915 prospectively tested consecutive Polish ALS patients from a neuromuscular clinical center, performed molecular modeling of mutated
SOD1
proteins and in silico analysis of mutation impact on clinical phenotype and survival analysis of associations between mutations and hazard of clinical end-points. Fifteen
SOD1
mutations were identified in 21.1% familial and 2.3% sporadic ALS cases. Their effects on SOD1 protein structure and functioning inferred from molecular modeling and in silico analyses correlate well with the clinical data. Molecular modeling results support the hypothesis that folding intermediates rather than mature SOD1 protein give rise to the source of cytotoxic conformations in ALS. Significant associations between type of mutation and clinical end-points were found.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ Adult
/ Aged
/ Amyotrophic lateral sclerosis
/ Amyotrophic Lateral Sclerosis - diagnosis
/ Amyotrophic Lateral Sclerosis - enzymology
/ Amyotrophic Lateral Sclerosis - genetics
/ Amyotrophic Lateral Sclerosis - mortality
/ Female
/ Genetic Predisposition to Disease
/ Humanities and Social Sciences
/ Humans
/ Male
/ Mutation
/ Poland
/ Science
/ Structure-Activity Relationship
/ Superoxide Dismutase-1 - genetics
