DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
Identifieur interne : 002D42 ( Main/Exploration ); précédent : 002D41; suivant : 002D43DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
Auteurs : K. Hedrich [Allemagne] ; A. Djarmati [Allemagne, Serbie] ; N. Sch Fer [Allemagne] ; R. Hering [Allemagne] ; C. Wellenbrock [Allemagne] ; P. H. Weiss [Allemagne] ; R. Hilker [Allemagne] ; P. Vieregge [Allemagne] ; L. J. Ozelius [États-Unis] ; P. Heutink [Pays-Bas] ; V. Bonifati [Pays-Bas, Italie] ; E. Schwinger [Allemagne] ; A. E. Lang [Canada] ; J. Noth [Allemagne] ; S. B. Bressman [États-Unis] ; P. P. Pramstaller [Italie] ; O. Riess [Allemagne] ; C. Klein [Allemagne]Source :
- Neurology [ 0028-3878 ] ; 2004.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Background: Mutations in the Parkin gene (PARK2) are the most commonly identified cause of recessively inherited early-onset Parkinson disease (EOPD) but account for only a portion of cases. DJ-1 (PARK7) was recently reported as a second gene associated with recessively inherited PD with a homozygous exon deletion and a homozygous point mutation in two families. Methods: To investigate the frequency of DJ-1 mutations, the authors performed mutational analysis of all six coding exons of DJ-1 in 100 EOPD patients. For the detection of exon rearrangements, the authors developed a quantitative duplex PCR assay. Denaturing high performance liquid chromatography analysis was used to screen for point mutations and small deletions. Further, Parkin analysis was performed as previously described. Results: The authors identified two carriers of single heterozygous loss-of-function DJ-1 mutations, including a heterozygous deletion of exons 5 to 7 and an 11-base pair deletion, removing the invariant donor splice site in intron 5. Interestingly, both DJ-1 mutations identified in this study were found in the heterozygous state only. The authors also detected a polymorphism (R98Q) in 1.5% of the chromosomes in both the patient and control group. In the same patient sample, 17 cases were detected with mutations in the Parkin gene. Conclusions: Mutations in DJ-1 are less frequent than mutations in Parkin in EOPD patients but should be considered as a possible cause of EOPD. The effect of single heterozygous mutations in DJ-1 on the nigrostriatal system, as described for heterozygous changes in Parkin and PARK6, remains to be elucidated.
Affiliations:
- Allemagne, Canada, Italie, Pays-Bas, Serbie, États-Unis
- Latium, Ontario
- Rome, Toronto
- Université de Toronto
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Le document en format XML
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<s3>DEU</s3>
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<sZ>17 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University Tubingen</wicri:noRegion>
<wicri:noRegion>Department of Medical Genetics, University Tubingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wellenbrock, C" sort="Wellenbrock, C" uniqKey="Wellenbrock C" first="C." last="Wellenbrock">C. Wellenbrock</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Department of Human Genetics, University of Lübeck</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Department of Neurology, University of Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Weiss, P H" sort="Weiss, P H" uniqKey="Weiss P" first="P. H." last="Weiss">P. H. Weiss</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, University of Aachen</s1>
<s3>DEU</s3>
<sZ>6 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Aachen</wicri:noRegion>
<wicri:noRegion>Department of Neurology, University of Aachen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hilker, R" sort="Hilker, R" uniqKey="Hilker R" first="R." last="Hilker">R. Hilker</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, University of Cologne</s1>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Cologne</wicri:noRegion>
<wicri:noRegion>Department of Neurology, University of Cologne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vieregge, P" sort="Vieregge, P" uniqKey="Vieregge P" first="P." last="Vieregge">P. Vieregge</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Department of Neurology, University of Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ozelius, L J" sort="Ozelius, L J" uniqKey="Ozelius L" first="L. J." last="Ozelius">L. J. Ozelius</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Molecular Genetics, Albert Einstein College of Medicine</s1>
<s2>Bronx, NY</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Bronx, NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Heutink, P" sort="Heutink, P" uniqKey="Heutink P" first="P." last="Heutink">P. Heutink</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Eramus Medical Center Rotterdam</s1>
<s3>NLD</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Eramus Medical Center Rotterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bonifati, V" sort="Bonifati, V" uniqKey="Bonifati V" first="V." last="Bonifati">V. Bonifati</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Eramus Medical Center Rotterdam</s1>
<s3>NLD</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Eramus Medical Center Rotterdam</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Department of Neurological Sciences, "La Sapienza" University</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schwinger, E" sort="Schwinger, E" uniqKey="Schwinger E" first="E." last="Schwinger">E. Schwinger</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Department of Human Genetics, University of Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A. E." last="Lang">A. E. Lang</name>
<affiliation wicri:level="4"><inist:fA14 i1="10"><s1>Division of Neurology, Department of Medicine, University of Toronto, and Toronto Western Hospital</s1>
<s3>CAN</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Division of Neurology, Department of Medicine, University of Toronto, and Toronto Western Hospital</wicri:noRegion>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Noth, J" sort="Noth, J" uniqKey="Noth J" first="J." last="Noth">J. Noth</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, University of Aachen</s1>
<s3>DEU</s3>
<sZ>6 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Aachen</wicri:noRegion>
<wicri:noRegion>Department of Neurology, University of Aachen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bressman, S B" sort="Bressman, S B" uniqKey="Bressman S" first="S. B." last="Bressman">S. B. Bressman</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Neurology, Beth Israel Medical Center</s1>
<s2>New York, NY</s2>
<s3>USA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>New York, NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pramstaller, P P" sort="Pramstaller, P P" uniqKey="Pramstaller P" first="P. P." last="Pramstaller">P. P. Pramstaller</name>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Department of Neurology, Regional General Hospital</s1>
<s2>Bolzano</s2>
<s3>ITA</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Bolzano</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Riess, O" sort="Riess, O" uniqKey="Riess O" first="O." last="Riess">O. Riess</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Medical Genetics, University Tubingen</s1>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University Tubingen</wicri:noRegion>
<wicri:noRegion>Department of Medical Genetics, University Tubingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Department of Human Genetics, University of Lübeck</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Department of Neurology, University of Lübeck</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
<imprint><date when="2004">2004</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkin</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinson maladie</term>
<term>Mutation</term>
<term>Parkine</term>
<term>Système nerveux pathologie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Background: Mutations in the Parkin gene (PARK2) are the most commonly identified cause of recessively inherited early-onset Parkinson disease (EOPD) but account for only a portion of cases. DJ-1 (PARK7) was recently reported as a second gene associated with recessively inherited PD with a homozygous exon deletion and a homozygous point mutation in two families. Methods: To investigate the frequency of DJ-1 mutations, the authors performed mutational analysis of all six coding exons of DJ-1 in 100 EOPD patients. For the detection of exon rearrangements, the authors developed a quantitative duplex PCR assay. Denaturing high performance liquid chromatography analysis was used to screen for point mutations and small deletions. Further, Parkin analysis was performed as previously described. Results: The authors identified two carriers of single heterozygous loss-of-function DJ-1 mutations, including a heterozygous deletion of exons 5 to 7 and an 11-base pair deletion, removing the invariant donor splice site in intron 5. Interestingly, both DJ-1 mutations identified in this study were found in the heterozygous state only. The authors also detected a polymorphism (R98Q) in 1.5% of the chromosomes in both the patient and control group. In the same patient sample, 17 cases were detected with mutations in the Parkin gene. Conclusions: Mutations in DJ-1 are less frequent than mutations in Parkin in EOPD patients but should be considered as a possible cause of EOPD. The effect of single heterozygous mutations in DJ-1 on the nigrostriatal system, as described for heterozygous changes in Parkin and PARK6, remains to be elucidated.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Canada</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>Serbie</li>
<li>États-Unis</li>
</country>
<region><li>Latium</li>
<li>Ontario</li>
</region>
<settlement><li>Rome</li>
<li>Toronto</li>
</settlement>
<orgName><li>Université de Toronto</li>
</orgName>
</list>
<tree><country name="Allemagne"><noRegion><name sortKey="Hedrich, K" sort="Hedrich, K" uniqKey="Hedrich K" first="K." last="Hedrich">K. Hedrich</name>
</noRegion>
<name sortKey="Djarmati, A" sort="Djarmati, A" uniqKey="Djarmati A" first="A." last="Djarmati">A. Djarmati</name>
<name sortKey="Djarmati, A" sort="Djarmati, A" uniqKey="Djarmati A" first="A." last="Djarmati">A. Djarmati</name>
<name sortKey="Hedrich, K" sort="Hedrich, K" uniqKey="Hedrich K" first="K." last="Hedrich">K. Hedrich</name>
<name sortKey="Hering, R" sort="Hering, R" uniqKey="Hering R" first="R." last="Hering">R. Hering</name>
<name sortKey="Hilker, R" sort="Hilker, R" uniqKey="Hilker R" first="R." last="Hilker">R. Hilker</name>
<name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name>
<name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name>
<name sortKey="Noth, J" sort="Noth, J" uniqKey="Noth J" first="J." last="Noth">J. Noth</name>
<name sortKey="Riess, O" sort="Riess, O" uniqKey="Riess O" first="O." last="Riess">O. Riess</name>
<name sortKey="Sch Fer, N" sort="Sch Fer, N" uniqKey="Sch Fer N" first="N." last="Sch Fer">N. Sch Fer</name>
<name sortKey="Sch Fer, N" sort="Sch Fer, N" uniqKey="Sch Fer N" first="N." last="Sch Fer">N. Sch Fer</name>
<name sortKey="Schwinger, E" sort="Schwinger, E" uniqKey="Schwinger E" first="E." last="Schwinger">E. Schwinger</name>
<name sortKey="Vieregge, P" sort="Vieregge, P" uniqKey="Vieregge P" first="P." last="Vieregge">P. Vieregge</name>
<name sortKey="Weiss, P H" sort="Weiss, P H" uniqKey="Weiss P" first="P. H." last="Weiss">P. H. Weiss</name>
<name sortKey="Wellenbrock, C" sort="Wellenbrock, C" uniqKey="Wellenbrock C" first="C." last="Wellenbrock">C. Wellenbrock</name>
<name sortKey="Wellenbrock, C" sort="Wellenbrock, C" uniqKey="Wellenbrock C" first="C." last="Wellenbrock">C. Wellenbrock</name>
</country>
<country name="Serbie"><noRegion><name sortKey="Djarmati, A" sort="Djarmati, A" uniqKey="Djarmati A" first="A." last="Djarmati">A. Djarmati</name>
</noRegion>
</country>
<country name="États-Unis"><noRegion><name sortKey="Ozelius, L J" sort="Ozelius, L J" uniqKey="Ozelius L" first="L. J." last="Ozelius">L. J. Ozelius</name>
</noRegion>
<name sortKey="Bressman, S B" sort="Bressman, S B" uniqKey="Bressman S" first="S. B." last="Bressman">S. B. Bressman</name>
</country>
<country name="Pays-Bas"><noRegion><name sortKey="Heutink, P" sort="Heutink, P" uniqKey="Heutink P" first="P." last="Heutink">P. Heutink</name>
</noRegion>
<name sortKey="Bonifati, V" sort="Bonifati, V" uniqKey="Bonifati V" first="V." last="Bonifati">V. Bonifati</name>
</country>
<country name="Italie"><region name="Latium"><name sortKey="Bonifati, V" sort="Bonifati, V" uniqKey="Bonifati V" first="V." last="Bonifati">V. Bonifati</name>
</region>
<name sortKey="Pramstaller, P P" sort="Pramstaller, P P" uniqKey="Pramstaller P" first="P. P." last="Pramstaller">P. P. Pramstaller</name>
</country>
<country name="Canada"><region name="Ontario"><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A. E." last="Lang">A. E. Lang</name>
</region>
</country>
</tree>
</affiliations>
</record>
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