Paraoxonase gene mutations in amyotrophic lateral sclerosis.

Autor: Ticozzi N; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., LeClerc AL, Keagle PJ, Glass JD, Wills AM, van Blitterswijk M, Bosco DA, Rodriguez-Leyva I, Gellera C, Ratti A, Taroni F, McKenna-Yasek D, Sapp PC, Silani V, Furlong CE, Brown RH Jr, Landers JE
Jazyk: angličtina
Zdroj: Annals of neurology [Ann Neurol] 2010 Jul; Vol. 68 (1), pp. 102-7.
DOI: 10.1002/ana.21993
Abstrakt: 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.
Databáze: MEDLINE