Paraoxonase gene mutations in amyotrophic lateral sclerosis
Copyright policy )Paraoxonase gene mutations in amyotrophic lateral sclerosis
AbstractThree 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. ANN NEUROL 2010
- Massachusetts Institute of Technology United States
- University of Massachusetts Medical School United States
- University of Mary United States
- Washington State University United States
- Istituto Neurologico Carlo Besta Italy
Sequence Homology, Amino Acid, low-density-lipotrotein; sporadic ALS; cluster polymorphisms; colorectal adenomas; rare variants; PON1; susceptibility; protein; identification; promoter, Aryldialkylphosphatase, Amyotrophic Lateral Sclerosis, DNA Mutational Analysis, Mutation, Esterases, Humans, Family, Amino Acid Sequence
Sequence Homology, Amino Acid, low-density-lipotrotein; sporadic ALS; cluster polymorphisms; colorectal adenomas; rare variants; PON1; susceptibility; protein; identification; promoter, Aryldialkylphosphatase, Amyotrophic Lateral Sclerosis, DNA Mutational Analysis, Mutation, Esterases, Humans, Family, Amino Acid Sequence
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