The PLA2G6 gene in early-onset Parkinson's disease.
Identifieur interne : 003359 ( Ncbi/Merge ); précédent : 003358; suivant : 003360The PLA2G6 gene in early-onset Parkinson's disease.
Auteurs : Kai Michael Kauther [Allemagne] ; Christine Höft ; Ida Rissling ; Wolfgang H. Oertel ; Jens Carsten MöllerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Calcium (physiology), Exons (genetics), Female, Genetic Predisposition to Disease, Group VI Phospholipases A2 (genetics), Heterozygote Detection, Humans, Male, Middle Aged, Mutation (genetics), Parkinson Disease (classification), Parkinson Disease (enzymology), Parkinson Disease (genetics), Pilot Projects, Polymorphism, Single Nucleotide (genetics), Young Adult.
- MESH :
- chemical , genetics : Group VI Phospholipases A2.
- chemical , physiology : Calcium.
- classification : Parkinson Disease.
- enzymology : Parkinson Disease.
- genetics : Exons, Mutation, Parkinson Disease, Polymorphism, Single Nucleotide.
- Adult, Age of Onset, Aged, Aged, 80 and over, Female, Genetic Predisposition to Disease, Heterozygote Detection, Humans, Male, Middle Aged, Pilot Projects, Young Adult.
Abstract
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(2) (iPLA(2)-VI) in the pathogenesis of PD has been proposed.
DOI: 10.1002/mds.23851
PubMed: 21812034
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<record><TEI><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><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Philipps University, Marburg, Germany.</nlm:affiliation><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></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">PubMed</idno><date when="2011">2011</date><idno type="doi">10.1002/mds.23851</idno><idno type="RBID">pubmed:21812034</idno><idno type="pmid">21812034</idno><idno type="wicri:Area/PubMed/Corpus">001070</idno><idno type="wicri:Area/PubMed/Curation">001070</idno><idno type="wicri:Area/PubMed/Checkpoint">001061</idno><idno type="wicri:Area/Ncbi/Merge">003359</idno></publicationStmt><sourceDesc><biblStruct><analytic><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><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Philipps University, Marburg, Germany.</nlm:affiliation><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></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></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Calcium (physiology)</term><term>Exons (genetics)</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Group VI Phospholipases A2 (genetics)</term><term>Heterozygote Detection</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (classification)</term><term>Parkinson Disease (enzymology)</term><term>Parkinson Disease (genetics)</term><term>Pilot Projects</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Group VI Phospholipases A2</term></keywords><keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Calcium</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Mutation</term><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Heterozygote Detection</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pilot Projects</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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(2) (iPLA(2)-VI) in the pathogenesis of PD has been proposed.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">21812034</PMID><DateCreated><Year>2011</Year><Month>11</Month><Day>23</Day></DateCreated><DateCompleted><Year>2012</Year><Month>04</Month><Day>05</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>26</Volume><Issue>13</Issue><PubDate><Year>2011</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>The PLA2G6 gene in early-onset Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>2415-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23851</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="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 A(2) (iPLA(2)-VI) in the pathogenesis of PD has been proposed.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">In this study we analyzed all 17 exons of the PLA2G6 gene encoding iPLA(2)-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.</AbstractText><AbstractText Label="RESULTS" NlmCategory="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.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="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.</AbstractText><CopyrightInformation>Copyright © 2011 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kauther</LastName><ForeName>Kai Michael</ForeName><Initials>KM</Initials><AffiliationInfo><Affiliation>Department of Neurology, Philipps University, Marburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Höft</LastName><ForeName>Christine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Rissling</LastName><ForeName>Ida</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Oertel</LastName><ForeName>Wolfgang H</ForeName><Initials>WH</Initials></Author><Author ValidYN="Y"><LastName>Möller</LastName><ForeName>Jens Carsten</ForeName><Initials>JC</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D003160">Comparative Study</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D018486">Twin Study</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</Year><Month>08</Month><Day>02</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 3.1.1.4</RegistryNumber><NameOfSubstance UI="D054522">Group VI Phospholipases A2</NameOfSubstance></Chemical><Chemical><RegistryNumber>SY7Q814VUP</RegistryNumber><NameOfSubstance 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UI="Q000145">classification</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000201">enzymology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010865">Pilot Projects</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2010</Year><Month>5</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2011</Year><Month>4</Month><Day>24</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2011</Year><Month>5</Month><Day>26</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2011</Year><Month>8</Month><Day>2</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2011</Year><Month>8</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2011</Year><Month>8</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2012</Year><Month>4</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23851</ArticleId><ArticleId IdType="pubmed">21812034</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li></country><region><li>District de Giessen</li><li>Hesse (Land)</li></region><settlement><li>Marbourg</li></settlement></list><tree><noCountry><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></noCountry><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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