Paraoxonase gene mutations in amyotrophic lateral sclerosis

✍ Scribed by Nicola Ticozzi; Ashley Lyn LeClerc; Pamela J. Keagle; Jonathan D. Glass; Anne-Marie Wills; Marka van Blitterswijk; Daryl A. Bosco; Ildefonso Rodriguez-Leyva; Cinzia Gellera; Antonia Ratti; Franco Taroni; Diane McKenna-Yasek; Peter C. Sapp; Vincenzo Silani; Clement E. Furlong; Robert H. Brown Jr.; John E. Landers

• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 132 KB
• Volume: 68
• Category: Article
• ISSN: 0364-5134
• DOI: 10.1002/ana.21993

✦ Synopsis

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. ANN NEUROL 2010