Genetic polymorphisms of superoxide dismutase in Parkinson's disease
Identifieur interne : 003212 ( Istex/Corpus ); précédent : 003211; suivant : 003213Genetic polymorphisms of superoxide dismutase in Parkinson's disease
Auteurs : Federico M. Farin ; Yolanda Hitosis ; Sarah E. Hallagan ; John Kushleika ; James S. Woods ; Patricia S. Janssen ; Terri Smith-Weller ; Gary M. Franklin ; Phillip D. Swanson ; Harvey CheckowaySource :
- Movement Disorders [ 0885-3185 ] ; 2001-07.
English descriptors
Abstract
Oxidative stress reactions may contribute to the pathogenesis of Parkinson's disease (PD). The superoxide dismutases potentially play significant roles in PD by detoxifying superoxide radical. We developed genomic DNA and cDNA‐based sequencing assays to identify genetic variants in the copper/zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes. No genetic variants were detected in the gene encoding SOD1 in DNA from 45 idiopathic PD cases and 49 controls from a population‐based case‐control study. However, we identified a previously described polymorphism of the mitochondrial targeting sequence consisting of a C47T in exon 2 of SOD2, which results in an alanine to valine substitution. We analyzed this SOD2 variant in DNA from 155 cases and 231 controls from the same study, using an allele‐specific fluorogenic 5′ nuclease assay, and found no differences in the distributions of allelic frequencies. These results indicate that SOD gene variants do not contribute to PD pathogenesis. © 2001 Movement Disorder Society.
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DOI: 10.1002/mds.1153
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ISTEX:4AEF194DCCFBF08819F9C42836D59A9BEAC3DDD6Le document en format XML
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The superoxide dismutases potentially play significant roles in PD by detoxifying superoxide radical. We developed genomic DNA and cDNA‐based sequencing assays to identify genetic variants in the copper/zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes. No genetic variants were detected in the gene encoding SOD1 in DNA from 45 idiopathic PD cases and 49 controls from a population‐based case‐control study. However, we identified a previously described polymorphism of the mitochondrial targeting sequence consisting of a C47T in exon 2 of SOD2, which results in an alanine to valine substitution. We analyzed this SOD2 variant in DNA from 155 cases and 231 controls from the same study, using an allele‐specific fluorogenic 5′ nuclease assay, and found no differences in the distributions of allelic frequencies. These results indicate that SOD gene variants do not contribute to PD pathogenesis. © 2001 Movement Disorder Society.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Federico M. Farin MD</name><affiliations><json:string>Department of Environmental Health, University of Washington, Seattle, Washington, USA</json:string></affiliations></json:item><json:item><name>Yolanda Hitosis BS</name><affiliations><json:string>Department of Environmental Health, University of Washington, Seattle, Washington, USA</json:string></affiliations></json:item><json:item><name>Sarah E. Hallagan BS</name><affiliations><json:string>Department of Environmental Health, University of Washington, Seattle, Washington, USA</json:string></affiliations></json:item><json:item><name>John Kushleika MS</name><affiliations><json:string>Department of Environmental Health, University of Washington, Seattle, Washington, USA</json:string></affiliations></json:item><json:item><name>James S. Woods PhD</name><affiliations><json:string>Department of Environmental Health, University of Washington, Seattle, Washington, USA</json:string></affiliations></json:item><json:item><name>Patricia S. Janssen MS</name><affiliations><json:string>Department of Environmental Health, University of Washington, Seattle, Washington, USA</json:string></affiliations></json:item><json:item><name>Terri Smith‐Weller MN</name><affiliations><json:string>Department of Environmental Health, University of Washington, Seattle, Washington, USA</json:string></affiliations></json:item><json:item><name>Gary M. Franklin MD, MPH</name><affiliations><json:string>Department of Environmental Health, University of Washington, Seattle, Washington, USA</json:string><json:string>Department of Neurology, University of Washington, Seattle, Washington, USA</json:string></affiliations></json:item><json:item><name>Phillip D. Swanson MD, PhD</name><affiliations><json:string>Department of Neurology, University of Washington, Seattle, Washington, USA</json:string></affiliations></json:item><json:item><name>Harvey Checkoway PhD</name><affiliations><json:string>Department of Environmental Health, University of Washington, Seattle, Washington, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>superoxide dismutase</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetic polymorphisms</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>oxidative stress</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Oxidative stress reactions may contribute to the pathogenesis of Parkinson's disease (PD). The superoxide dismutases potentially play significant roles in PD by detoxifying superoxide radical. We developed genomic DNA and cDNA‐based sequencing assays to identify genetic variants in the copper/zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes. No genetic variants were detected in the gene encoding SOD1 in DNA from 45 idiopathic PD cases and 49 controls from a population‐based case‐control study. However, we identified a previously described polymorphism of the mitochondrial targeting sequence consisting of a C47T in exon 2 of SOD2, which results in an alanine to valine substitution. We analyzed this SOD2 variant in DNA from 155 cases and 231 controls from the same study, using an allele‐specific fluorogenic 5′ nuclease assay, and found no differences in the distributions of allelic frequencies. 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xml:id="kwd3">genetic polymorphisms</keyword><keyword xml:id="kwd4">oxidative stress</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Oxidative stress reactions may contribute to the pathogenesis of Parkinson's disease (PD). The superoxide dismutases potentially play significant roles in PD by detoxifying superoxide radical. We developed genomic DNA and cDNA‐based sequencing assays to identify genetic variants in the copper/zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes. No genetic variants were detected in the gene encoding SOD1 in DNA from 45 idiopathic PD cases and 49 controls from a population‐based case‐control study. However, we identified a previously described polymorphism of the mitochondrial targeting sequence consisting of a C47T in exon 2 of SOD2, which results in an alanine to valine substitution. We analyzed this SOD2 variant in DNA from 155 cases and 231 controls from the same study, using an allele‐specific fluorogenic 5′ nuclease assay, and found no differences in the distributions of allelic frequencies. These results indicate that SOD gene variants do not contribute to PD pathogenesis. © 2001 Movement Disorder Society.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Genetic polymorphisms of superoxide dismutase in Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Genetic Polymorphisms of SOD in Parkinson's Disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Genetic polymorphisms of superoxide dismutase in Parkinson's disease</title></titleInfo><name type="personal"><namePart type="given">Federico M.</namePart><namePart type="family">Farin</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Environmental Health, University of Washington, Seattle, Washington, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yolanda</namePart><namePart type="family">Hitosis</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Environmental Health, University of Washington, Seattle, Washington, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sarah E.</namePart><namePart type="family">Hallagan</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Environmental Health, University of Washington, Seattle, Washington, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John</namePart><namePart type="family">Kushleika</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Environmental Health, University of Washington, Seattle, Washington, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">James S.</namePart><namePart type="family">Woods</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Environmental Health, University of Washington, Seattle, Washington, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Patricia S.</namePart><namePart type="family">Janssen</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Environmental Health, University of Washington, Seattle, Washington, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Terri</namePart><namePart type="family">Smith‐Weller</namePart><namePart type="termsOfAddress">MN</namePart><affiliation>Department of Environmental Health, University of Washington, Seattle, Washington, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gary M.</namePart><namePart type="family">Franklin</namePart><namePart type="termsOfAddress">MD, MPH</namePart><affiliation>Department of Environmental Health, University of Washington, Seattle, Washington, USA</affiliation><affiliation>Department of Neurology, University of Washington, Seattle, Washington, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Phillip D.</namePart><namePart type="family">Swanson</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, University of Washington, Seattle, Washington, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Harvey</namePart><namePart type="family">Checkoway</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Environmental Health, University of Washington, Seattle, Washington, USA</affiliation><description>Correspondence: University of Washington, Department of Environmental Health, Box 357234, Seattle, WA 98195‐7234.</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">shortCommunication</genre><originInfo><publisher>John Wiley & Sons, Inc.</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">2001-07</dateIssued><dateCaptured encoding="w3cdtf">2000-05-02</dateCaptured><dateValid encoding="w3cdtf">2000-10-20</dateValid><copyrightDate encoding="w3cdtf">2001</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">1</extent><extent unit="references">17</extent><extent unit="words">1722</extent></physicalDescription><abstract lang="en">Oxidative stress reactions may contribute to the pathogenesis of Parkinson's disease (PD). The superoxide dismutases potentially play significant roles in PD by detoxifying superoxide radical. We developed genomic DNA and cDNA‐based sequencing assays to identify genetic variants in the copper/zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes. No genetic variants were detected in the gene encoding SOD1 in DNA from 45 idiopathic PD cases and 49 controls from a population‐based case‐control study. However, we identified a previously described polymorphism of the mitochondrial targeting sequence consisting of a C47T in exon 2 of SOD2, which results in an alanine to valine substitution. We analyzed this SOD2 variant in DNA from 155 cases and 231 controls from the same study, using an allele‐specific fluorogenic 5′ nuclease assay, and found no differences in the distributions of allelic frequencies. These results indicate that SOD gene variants do not contribute to PD pathogenesis. © 2001 Movement Disorder Society.</abstract><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>superoxide dismutase</topic><topic>genetic polymorphisms</topic><topic>oxidative stress</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></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>2001</date><detail type="volume"><caption>vol.</caption><number>16</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>705</start><end>707</end><total>3</total></extent></part></relatedItem><identifier type="istex">4AEF194DCCFBF08819F9C42836D59A9BEAC3DDD6</identifier><identifier type="DOI">10.1002/mds.1153</identifier><identifier type="ArticleID">MDS1153</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2001 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>John Wiley & Sons, Inc.</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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