What is SOD1 and what is its role in ALS?

What is SOD1 and what is its role in ALS?

The canonical role of superoxide dismutase 1 (SOD1) is as an antioxidant enzyme protecting the cell from reactive oxygen species toxicity. SOD1 was also the first gene in which mutations were found to be causative for the neurodegenerative disease amyotrophic lateral sclerosis (ALS), more than 20 years ago.

What is SOD1 ALS?

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease caused by motoneuron loss. Some familial cases (fALS) are linked to mutations of superoxide dismutase type-1 (SOD1), an antioxidant enzyme whose activity is preserved in most mutant forms.

How does the SOD1 gene cause ALS?

It is widely accepted that a hallmark of SOD1-associated ALS is the deposition of SOD1 into insoluble aggregates in motor neurons, probably due to a consequence of structural destabilisation and/or oxidative damage induced by gene mutations which in turn contribute to the misfolding and aggregation of SOD1 into …

How inheritable is ALS?

Is amyotrophic lateral sclerosis (ALS) inherited? About 90-95% percent of cases of ALS are not inherited and occur in individuals with no history of the disease in their family. The remaining 5-10% of cases are familial , and are thought to be caused by mutations in any one of several genes .

Does everyone have the SOD1 gene?

Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or SOD1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide dismutases….

showRNA expression pattern
showGene ontology
Species Human Mouse

Is there a slow progressing form of ALS?

The progress of PLS is more gradual and less devastating than that of ALS. Unlike ALS, PLS does not result in muscle wast- ing, and although it is disabling, it is not fatal. Some ALS specialists believe that PLS is on the ALS continuum and may not be a separate disease, but a very slow-progress- ing type of ALS.

Can Crispr be used to cure ALS?

The in vivo data from our long-term study in the hSOD1-ALS mice suggest that CRISPR/Cas9 genome editing could be developed as an effective therapeutic approach, with an acceptable risk for treating devastating and uniformly fatal diseases with rapid progression, such as SOD1-A4V linked ALS, which has only 1 year …