The PLA2G6 gene in early‐onset Parkinson's disease
Identifieur interne : 000893 ( Istex/Corpus ); précédent : 000892; suivant : 000894The PLA2G6 gene in early‐onset Parkinson's disease
Auteurs : Kai Michael Kauther ; Christine Höft ; Ida Rissling ; Wolfgang H. Oertel ; Jens Carsten MöllerSource :
- 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
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DOI: 10.1002/mds.23851
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<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>
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<notesStmt><note type="content">*Funding agencies: This study was supported by Kompetenznetz Parkinson (BMB+F: 01GI0201).</note>
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<abstract xml:lang="en"><p>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</p>
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<section xml:id="abs1-1"><title type="main">Background:</title>
<p>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 A<sub>2</sub>
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<section xml:id="abs1-2"><title type="main">Methods:</title>
<p>In this study we analyzed all 17 exons of the <i>PLA2G6</i>
gene encoding iPLA<sub>2</sub>
‐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.</p>
</section>
<section xml:id="abs1-3"><title type="main">Results:</title>
<p>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 <sc>L</sc>
‐dopa‐responsive sporadic EOPD and in none of our controls, indicating a possible role of <i>PLA2G6</i>
in the pathogenesis of EOPD in rare cases.</p>
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<section xml:id="abs1-4"><title type="main">Conclusions:</title>
<p>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 <i>PLA2G6</i>
gene. © 2011 Movement Disorder Society</p>
</section>
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<noteGroup><note xml:id="fn1"><p><b>Funding agencies:</b>
This study was supported by Kompetenznetz Parkinson (BMB+F: 01GI0201).</p>
</note>
<note xml:id="fn2"><p><b>Relevant conflicts of interest/financial disclosures:</b>
Nothing to report.</p>
</note>
<note xml:id="fn3"><p>Full financial disclosures and author roles may be found in the online version of this article.</p>
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<!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>The PLA2G6 gene in early‐onset Parkinson's disease</title>
</titleInfo>
<titleInfo type="abbreviated" lang="en"><title>PLA2G6 and PD</title>
</titleInfo>
<titleInfo type="alternative" contentType="CDATA" lang="en"><title>The</title>
</titleInfo>
<name type="personal"><namePart type="given">Kai Michael</namePart>
<namePart type="family">Kauther</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Christine</namePart>
<namePart type="family">Höft</namePart>
<affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Ida</namePart>
<namePart type="family">Rissling</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Wolfgang H.</namePart>
<namePart type="family">Oertel</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jens Carsten</namePart>
<namePart type="family">Möller</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation>
<affiliation>Neurocenter of Southern Switzerland, Lugano, Switzerland</affiliation>
<description>Correspondence: Department of Neurology, Philipps University, Baldingerstr., 35043 Marburg, Germany</description>
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<originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<place><placeTerm type="text">Hoboken</placeTerm>
</place>
<dateIssued encoding="w3cdtf">2011-11</dateIssued>
<dateCaptured encoding="w3cdtf">2010-05-25</dateCaptured>
<dateValid encoding="w3cdtf">2011-05-26</dateValid>
<copyrightDate encoding="w3cdtf">2011</copyrightDate>
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<languageTerm type="code" authority="iso639-2b">eng</languageTerm>
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<extent unit="words">2847</extent>
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<abstract 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</abstract>
<note type="content">*Funding agencies: This study was supported by Kompetenznetz Parkinson (BMB+F: 01GI0201).</note>
<note type="content">*Relevant conflicts of interest/financial disclosures: Nothing to report.</note>
<note type="content">*Full financial disclosures and author roles may be found in the online version of this article.</note>
<subject lang="en"><genre>Keywords</genre>
<topic>Parkinson syndrome</topic>
<topic>genetics</topic>
<topic>NBIA</topic>
<topic>PARK14</topic>
<topic>SNP</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Movement Disorders</title>
</titleInfo>
<titleInfo type="abbreviated"><title>Mov. Disord.</title>
</titleInfo>
<subject><genre>article category</genre>
<topic>Brief Report</topic>
</subject>
<identifier type="ISSN">0885-3185</identifier>
<identifier type="eISSN">1531-8257</identifier>
<identifier type="DOI">10.1002/(ISSN)1531-8257</identifier>
<identifier type="PublisherID">MDS</identifier>
<part><date>2011</date>
<detail type="volume"><caption>vol.</caption>
<number>26</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>13</number>
</detail>
<extent unit="pages"><start>2415</start>
<end>2417</end>
<total>3</total>
</extent>
</part>
</relatedItem>
<identifier type="istex">AF8A95F12AA325FDB644F908B01CE0C469008A56</identifier>
<identifier type="DOI">10.1002/mds.23851</identifier>
<identifier type="ArticleID">MDS23851</identifier>
<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2011 Movement Disorder Society</accessCondition>
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<recordContentSource>WILEY</recordContentSource>
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