Paraoxonase gene mutations in amyotrophic lateral sclerosis.
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.
Ticozzi
Nicola
N
Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
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
D000595:Amino Acid Sequence; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D043303:Aryldialkylphosphatase / Q000235:genetics*; D004252:DNA Mutational Analysis; D004950:Esterases / Q000235:genetics*; D005190:Family; D006801:Humans; D009154:Mutation; D017386:Sequence Homology, Amino Acid
D004950:Esterases; D043303:Aryldialkylphosphatase; C468406:PON1 protein, human; C468411:PON2 protein, human; C113656:PON3 protein, human