Paraoxonase gene mutations in amyotrophic lateral sclerosis.
Where this comes from
- Record sourced from PubMed, PMID 20582942.
- Also identified by DOI 10.1002/ana.21993 and PMC identifier 2945725.
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Abstract
Three clustered, homologous paraoxonase genes (PON1, PON2, and PON3) have roles in preventing lipid oxidation and detoxifying organophosphates. Recent reports describe a genetic association between the PON genes and sporadic amyotrophic lateral sclerosis (ALS). We now report that in genomic DNA from individuals with familial and sporadic ALS, we have identified at least 7 PON gene mutations that are predicted to alter PON function.
Medical subject headings
- Amyotrophic Lateral Sclerosis
- Aryldialkylphosphatase
- Esterases
- Mutation