Mutant Cu/Zn Superoxide Dismutase (A4V) Turnover Is Altered in Cells Containing Inclusions

Publication Name

Frontiers in Molecular Neuroscience

Abstract

SOD1 mutations account for ∼20% of familial amyotrophic lateral sclerosis (ALS) cases in which the hallmark pathological feature is insoluble SOD1 aggregates within motor neurons. Here, we investigated the degradation and synthesis of mutant SOD1 to determine whether the aggregation of mutant SOD1A4V affects these processes. We confirm that, in general, the degradation of mutant SOD1A4V occurs at a significantly faster rate than wild-type SOD1. We also report that the turnover and synthesis of mutant SOD1A4V is impaired in the presence of insoluble SOD1A4V aggregates. However, the timing of aggregation of SOD1A4V did not coincide with UPS dysfunction. Together, these results reveal the impact of SOD1 aggregation on protein degradation pathways, highlighting the importance of the UPS in preventing neurodegenerative disorders such as ALS.

Open Access Status

This publication may be available as open access

Volume

14

Article Number

771911

Funding Number

1194872

Funding Sponsor

Motor Neurone Disease Research Institute of Australia

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Link to publisher version (DOI)

http://dx.doi.org/10.3389/fnmol.2021.771911