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Paraoxonase gene mutations in amyotrophic lateral sclerosis.

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.

SUBMITTER: Ticozzi N

PROVIDER: S-EPMC2945725 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature

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Paraoxonase gene mutations in amyotrophic lateral sclerosis.

Ticozzi Nicola N LeClerc Ashley Lyn AL Keagle Pamela J PJ Glass Jonathan D JD Wills Anne-Marie AM van Blitterswijk Marka M Bosco Daryl A DA Rodriguez-Leyva Ildefonso I Gellera Cinzia C Ratti Antonia A Taroni Franco F McKenna-Yasek Diane D Sapp Peter C PC Silani Vincenzo V Furlong Clement E CE Brown Robert H RH Landers John E JE

Annals of neurology 20100701 1

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. ...[more]

PMID: 20582942

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