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.
Paraoxonase gene mutations in amyotrophic lateral sclerosis / N. Ticozzi, A.L. Leclerc, P. Keagle, J.D. Glass, A.M. Wills, M. van Blitterswijk, D.A. Bosco, I. Rodriguez Leyva, C. Gellera, A. Ratti, F. Taroni, D.M. McKenna Yasek, P.C. Sapp, V. Silani, C.E. Furlong, R.H. Brown Jr, J.E. Landers. - In: ANNALS OF NEUROLOGY. - ISSN 0364-5134. - 68:1(2010), pp. 102-107. [10.1002/ana.21993]
Paraoxonase gene mutations in amyotrophic lateral sclerosis
N. TicozziPrimo
;A. Ratti;V. Silani;
2010
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.
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