scholarly journals SOD1 Transcriptional and Posttranscriptional Regulation and Its Potential Implications in ALS

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Pamela Milani ◽  
Stella Gagliardi ◽  
Emanuela Cova ◽  
Cristina Cereda
Keyword(s):  
Posttranscriptional Regulation ◽  
Mrna Levels ◽  
Coding Region ◽  
Regulatory Pathways ◽  
Copper Zinc Superoxide Dismutase ◽  
Zinc Superoxide Dismutase ◽  
Sporadic Als ◽  
Copper Zinc ◽  
Cellular Phenotypes ◽  
Lateral Sclerosis

Copper-zinc superoxide dismutase (SOD1) is a detoxifying enzyme localized in the cytosol, nucleus, peroxisomes, and mitochondria. The discovery that mutations inSOD1gene cause a subset of familial amyotrophic lateral sclerosis (FALS) has attracted great attention, and studies to date have been mainly focused on discovering mutations in the coding region and investigation at protein level. Considering that changes in SOD1 mRNA levels have been associated with sporadic ALS (SALS), a molecular understanding of the processes involved in the regulation ofSOD1gene expression could not only unravel novel regulatory pathways that may govern cellular phenotypes and changes in diseases but also might reveal therapeutic targets and treatments. This review seeks to provide an overview ofSOD1gene structure and of the processes through which SOD1 transcription is controlled. Furthermore, we emphasize the importance to focus future researches on investigating posttranscriptional mechanisms and their relevance to ALS.

scholarly journals Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study

2020 ◽  
Vol 21 (18) ◽  
pp. 6807
Author(s):  
Emilien Bernard ◽  
Antoine Pegat ◽  
Juliette Svahn ◽  
Françoise Bouhour ◽  
Pascal Leblanc ◽  
...  
Keyword(s):  
Superoxide Dismutase 1 ◽  
Sod1 Gene ◽  
Copper Zinc Superoxide Dismutase ◽  
Pathogenic Variants ◽  
Zinc Superoxide Dismutase ◽  
Sporadic Als ◽  
Copper Zinc ◽  
Molecular Landscape ◽  
Als Patients ◽  
Lateral Sclerosis

Mutations in the copper zinc superoxide dismutase 1 (SOD1) gene are the second most frequent cause of familial amyotrophic lateral sclerosis (ALS). Nearly 200 mutations of this gene have been described so far. We report all SOD1 pathogenic variants identified in patients followed in the single ALS center of Lyon, France, between 2010 and 2020. Twelve patients from 11 unrelated families are described, including two families with the not yet described H81Y and D126N mutations. Splice site mutations were detected in two families. We discuss implications concerning genetic screening of SOD1 gene in familial and sporadic ALS.

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