The PLA2G6 gene in early‐onset Parkinson's disease
Identifieur interne : 000134 ( Main/Exploration ); précédent : 000133; suivant : 000135The PLA2G6 gene in early‐onset Parkinson's disease
Auteurs : Kai Michael Kauther [Allemagne] ; Christine Höft [Allemagne] ; Ida Rissling [Allemagne] ; Wolfgang H. Oertel [Allemagne] ; Jens Carsten Möller [Allemagne, Suisse]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-11.
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Abstract
Background:: The definite etiology of neurodegenerative disorders such as Parkinson's disease (PD) is still unknown. Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium‐independent group VI phospholipase A2 (iPLA2‐VI) in the pathogenesis of PD has been proposed. Methods:: In this study we analyzed all 17 exons of the PLA2G6 gene encoding iPLA2‐VI in a group of 102 discordant pairs with early‐onset Parkinson's disease (EOPD) and an additional sample of 166 EOPD patients and 155 unrelated controls. Results:: The nonsynonymous single‐nucleotide polymorphisms (SNPs) 2339A>G (n = 2) and 2341G>A (n = 1) in 2 neighboring codons were found in 3 patients with typical L‐dopa‐responsive sporadic EOPD and in none of our controls, indicating a possible role of PLA2G6 in the pathogenesis of EOPD in rare cases. Conclusions:: Future studies should investigate the prevalence of these SNPs in other PD populations and larger control groups and also address possible genetic alterations in the remaining parts of the PLA2G6 gene. © 2011 Movement Disorder Society
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DOI: 10.1002/mds.23851
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Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium‐independent group VI phospholipase A2 (iPLA2‐VI) in the pathogenesis of PD has been proposed. Methods:: In this study we analyzed all 17 exons of the PLA2G6 gene encoding iPLA2‐VI in a group of 102 discordant pairs with early‐onset Parkinson's disease (EOPD) and an additional sample of 166 EOPD patients and 155 unrelated controls. Results:: The nonsynonymous single‐nucleotide polymorphisms (SNPs) 2339A>G (n = 2) and 2341G>A (n = 1) in 2 neighboring codons were found in 3 patients with typical L‐dopa‐responsive sporadic EOPD and in none of our controls, indicating a possible role of PLA2G6 in the pathogenesis of EOPD in rare cases. Conclusions:: Future studies should investigate the prevalence of these SNPs in other PD populations and larger control groups and also address possible genetic alterations in the remaining parts of the PLA2G6 gene. © 2011 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Suisse</li></country><region><li>District de Giessen</li><li>Hesse (Land)</li></region><settlement><li>Marbourg</li></settlement></list><tree><country name="Allemagne"><region name="Hesse (Land)"><name sortKey="Kauther, Kai Michael" sort="Kauther, Kai Michael" uniqKey="Kauther K" first="Kai Michael" last="Kauther">Kai Michael Kauther</name></region><name sortKey="Hoft, Christine" sort="Hoft, Christine" uniqKey="Hoft C" first="Christine" last="Höft">Christine Höft</name><name sortKey="Moller, Jens Carsten" sort="Moller, Jens Carsten" uniqKey="Moller J" first="Jens Carsten" last="Möller">Jens Carsten Möller</name><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H." last="Oertel">Wolfgang H. 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