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.
English descriptors
- KwdEn :
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
Url:
DOI: 10.1002/mds.23851
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">The PLA2G6 gene in early‐onset Parkinson's disease</title>
<author><name sortKey="Kauther, Kai Michael" sort="Kauther, Kai Michael" uniqKey="Kauther K" first="Kai Michael" last="Kauther">Kai Michael Kauther</name>
</author>
<author><name sortKey="Hoft, Christine" sort="Hoft, Christine" uniqKey="Hoft C" first="Christine" last="Höft">Christine Höft</name>
</author>
<author><name sortKey="Rissling, Ida" sort="Rissling, Ida" uniqKey="Rissling I" first="Ida" last="Rissling">Ida Rissling</name>
</author>
<author><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H." last="Oertel">Wolfgang H. Oertel</name>
</author>
<author><name sortKey="Moller, Jens Carsten" sort="Moller, Jens Carsten" uniqKey="Moller J" first="Jens Carsten" last="Möller">Jens Carsten Möller</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:AF8A95F12AA325FDB644F908B01CE0C469008A56</idno>
<date when="2011" year="2011">2011</date>
<idno type="doi">10.1002/mds.23851</idno>
<idno type="url">https://api.istex.fr/document/AF8A95F12AA325FDB644F908B01CE0C469008A56/fulltext/pdf</idno>
<idno type="wicri:Area/Main/Corpus">001A67</idno>
<idno type="wicri:Area/Main/Curation">001808</idno>
<idno type="wicri:Area/Main/Exploration">000134</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">The PLA2G6 gene in early‐onset Parkinson's disease</title>
<author><name sortKey="Kauther, Kai Michael" sort="Kauther, Kai Michael" uniqKey="Kauther K" first="Kai Michael" last="Kauther">Kai Michael Kauther</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Philipps University, Marburg</wicri:regionArea>
<placeName><region type="land" nuts="1">Hesse (Land)</region>
<region type="district" nuts="2">District de Giessen</region>
<settlement type="city">Marbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hoft, Christine" sort="Hoft, Christine" uniqKey="Hoft C" first="Christine" last="Höft">Christine Höft</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Philipps University, Marburg</wicri:regionArea>
<placeName><region type="land" nuts="1">Hesse (Land)</region>
<region type="district" nuts="2">District de Giessen</region>
<settlement type="city">Marbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rissling, Ida" sort="Rissling, Ida" uniqKey="Rissling I" first="Ida" last="Rissling">Ida Rissling</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Philipps University, Marburg</wicri:regionArea>
<placeName><region type="land" nuts="1">Hesse (Land)</region>
<region type="district" nuts="2">District de Giessen</region>
<settlement type="city">Marbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H." last="Oertel">Wolfgang H. Oertel</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Philipps University, Marburg</wicri:regionArea>
<placeName><region type="land" nuts="1">Hesse (Land)</region>
<region type="district" nuts="2">District de Giessen</region>
<settlement type="city">Marbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moller, Jens Carsten" sort="Moller, Jens Carsten" uniqKey="Moller J" first="Jens Carsten" last="Möller">Jens Carsten Möller</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Philipps University, Marburg</wicri:regionArea>
<placeName><region type="land" nuts="1">Hesse (Land)</region>
<region type="district" nuts="2">District de Giessen</region>
<settlement type="city">Marbourg</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Suisse</country>
<wicri:regionArea>Neurocenter of Southern Switzerland, Lugano</wicri:regionArea>
<wicri:noRegion>Lugano</wicri:noRegion>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2011-11">2011-11</date>
<biblScope unit="volume">26</biblScope>
<biblScope unit="issue">13</biblScope>
<biblScope unit="page" from="2415">2415</biblScope>
<biblScope unit="page" to="2417">2417</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">AF8A95F12AA325FDB644F908B01CE0C469008A56</idno>
<idno type="DOI">10.1002/mds.23851</idno>
<idno type="ArticleID">MDS23851</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>NBIA</term>
<term>PARK14</term>
<term>Parkinson syndrome</term>
<term>SNP</term>
<term>genetics</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">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</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. Oertel</name>
<name sortKey="Rissling, Ida" sort="Rissling, Ida" uniqKey="Rissling I" first="Ida" last="Rissling">Ida Rissling</name>
</country>
<country name="Suisse"><noRegion><name sortKey="Moller, Jens Carsten" sort="Moller, Jens Carsten" uniqKey="Moller J" first="Jens Carsten" last="Möller">Jens Carsten Möller</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000134 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000134 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= ParkinsonV1 |flux= Main |étape= Exploration |type= RBID |clé= ISTEX:AF8A95F12AA325FDB644F908B01CE0C469008A56 |texte= The PLA2G6 gene in early‐onset Parkinson's disease }}
This area was generated with Dilib version V0.6.23. |