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Relevance Of The Discovery Of The SOD1 Gene |
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It is now possible to test for mutations in the SOD1 gene. To date, over one hundred different mutations have been identified in this gene.
If the MND is caused by a SOD1 mutation:
- it is possible to test other family members to determine if they also have the SOD1 mutation. For example the adult children or brothers and sisters of an affected person could be tested;
- it is possible to test an unborn child to determine if it has inherited the SOD1 mutation; and
- it is not yet possible to predict the age at which symptoms will appear in those shown to have a SOD1 mutation, and some may never develop symptoms.
- Research will increase our understanding of the mechanism by which SOD1 mutations cause MND, and may lead to treatments which can prevent or delay the onset of MND in someone with a defective SOD1 gene.
It is possible that research on MND caused by SOD1 mutations will also contribute to our understanding of the causes of other types of MND.
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