Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease.
Identifieur interne : 003375 ( Ncbi/Merge ); précédent : 003374; suivant : 003376Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease.
Auteurs : Elena V. Semenova [Russie] ; Maria I. Shadrina ; Pyotr A. Slominsky ; Irina A. Ivanova-Smolenskaya ; Gulbakhar Bagyeva ; Sergei N. Illarioshkin ; Svetlana A. LimborskaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- geographic , epidemiology : Russia.
- classification : Parkinson Disease.
- epidemiology : Parkinson Disease.
- genetics : Exons, Gene Rearrangement, Parkinson Disease.
- Adult, Aged, Female, Humans, Male, Middle Aged, Young Adult.
Abstract
Deletions and duplications of single exons or exon groups account for a large proportion of the PARK2 gene mutations described in juvenile autosomal recessive Parkinson's disease (PD).
DOI: 10.1002/mds.23901
PubMed: 21915905
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease.</title><author><name sortKey="Semenova, Elena V" sort="Semenova, Elena V" uniqKey="Semenova E" first="Elena V" last="Semenova">Elena V. Semenova</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>Institute of Molecular Genetics, Russian Academy of Sciences, Moscow</wicri:regionArea><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Shadrina, Maria I" sort="Shadrina, Maria I" uniqKey="Shadrina M" first="Maria I" last="Shadrina">Maria I. Shadrina</name></author><author><name sortKey="Slominsky, Pyotr A" sort="Slominsky, Pyotr A" uniqKey="Slominsky P" first="Pyotr A" last="Slominsky">Pyotr A. Slominsky</name></author><author><name sortKey="Ivanova Smolenskaya, Irina A" sort="Ivanova Smolenskaya, Irina A" uniqKey="Ivanova Smolenskaya I" first="Irina A" last="Ivanova-Smolenskaya">Irina A. Ivanova-Smolenskaya</name></author><author><name sortKey="Bagyeva, Gulbakhar" sort="Bagyeva, Gulbakhar" uniqKey="Bagyeva G" first="Gulbakhar" last="Bagyeva">Gulbakhar Bagyeva</name></author><author><name sortKey="Illarioshkin, Sergei N" sort="Illarioshkin, Sergei N" uniqKey="Illarioshkin S" first="Sergei N" last="Illarioshkin">Sergei N. Illarioshkin</name></author><author><name sortKey="Limborska, Svetlana A" sort="Limborska, Svetlana A" uniqKey="Limborska S" first="Svetlana A" last="Limborska">Svetlana A. Limborska</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.23901</idno><idno type="RBID">pubmed:21915905</idno><idno type="pmid">21915905</idno><idno type="wicri:Area/PubMed/Corpus">001055</idno><idno type="wicri:Area/PubMed/Curation">001055</idno><idno type="wicri:Area/PubMed/Checkpoint">000F45</idno><idno type="wicri:Area/Ncbi/Merge">003375</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease.</title><author><name sortKey="Semenova, Elena V" sort="Semenova, Elena V" uniqKey="Semenova E" first="Elena V" last="Semenova">Elena V. Semenova</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>Institute of Molecular Genetics, Russian Academy of Sciences, Moscow</wicri:regionArea><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Shadrina, Maria I" sort="Shadrina, Maria I" uniqKey="Shadrina M" first="Maria I" last="Shadrina">Maria I. Shadrina</name></author><author><name sortKey="Slominsky, Pyotr A" sort="Slominsky, Pyotr A" uniqKey="Slominsky P" first="Pyotr A" last="Slominsky">Pyotr A. Slominsky</name></author><author><name sortKey="Ivanova Smolenskaya, Irina A" sort="Ivanova Smolenskaya, Irina A" uniqKey="Ivanova Smolenskaya I" first="Irina A" last="Ivanova-Smolenskaya">Irina A. Ivanova-Smolenskaya</name></author><author><name sortKey="Bagyeva, Gulbakhar" sort="Bagyeva, Gulbakhar" uniqKey="Bagyeva G" first="Gulbakhar" last="Bagyeva">Gulbakhar Bagyeva</name></author><author><name sortKey="Illarioshkin, Sergei N" sort="Illarioshkin, Sergei N" uniqKey="Illarioshkin S" first="Sergei N" last="Illarioshkin">Sergei N. Illarioshkin</name></author><author><name sortKey="Limborska, Svetlana A" sort="Limborska, Svetlana A" uniqKey="Limborska S" first="Svetlana A" last="Limborska">Svetlana A. Limborska</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="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Exons (genetics)</term><term>Female</term><term>Gene Rearrangement (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (classification)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Russia (epidemiology)</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Russia</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Gene Rearrangement</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Deletions and duplications of single exons or exon groups account for a large proportion of the PARK2 gene mutations described in juvenile autosomal recessive Parkinson's disease (PD).</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">21915905</PMID><DateCreated><Year>2012</Year><Month>01</Month><Day>18</Day></DateCreated><DateCompleted><Year>2012</Year><Month>05</Month><Day>21</Day></DateCompleted><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>27</Volume><Issue>1</Issue><PubDate><Year>2012</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>139-42</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23901</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Deletions and duplications of single exons or exon groups account for a large proportion of the PARK2 gene mutations described in juvenile autosomal recessive Parkinson's disease (PD).</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We analyzed rearrangements in exons 1 to 12 of the PARK2 gene in Russian sporadic patients with early-onset PD (EOPD) and late-onset PD (LOPD).</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">The frequency of EOPD and LOPD patients carrying these mutations was 12.4% and 3.8%, respectively. The most frequent rearrangements were detected in exons 3 and 4. The odds ratio for EOPD in individuals carrying PARK2 exon deletions and duplications was 13.95 (95% confidence interval [CI], 1.846-105.46; P = .0022). In addition, we found a correlation between exon rearrangements in PARK2 and the age at onset of PD, presence of dystonia, and symmetrical course of the disease.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Exon rearrangements in the PARK2 gene play a significant role in the pathogenesis of sporadic PD in Russian patients.</AbstractText><CopyrightInformation>Copyright © 2011 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Semenova</LastName><ForeName>Elena V</ForeName><Initials>EV</Initials><AffiliationInfo><Affiliation>Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shadrina</LastName><ForeName>Maria I</ForeName><Initials>MI</Initials></Author><Author ValidYN="Y"><LastName>Slominsky</LastName><ForeName>Pyotr A</ForeName><Initials>PA</Initials></Author><Author ValidYN="Y"><LastName>Ivanova-Smolenskaya</LastName><ForeName>Irina A</ForeName><Initials>IA</Initials></Author><Author ValidYN="Y"><LastName>Bagyeva</LastName><ForeName>Gulbakhar</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Illarioshkin</LastName><ForeName>Sergei N</ForeName><Initials>SN</Initials></Author><Author ValidYN="Y"><LastName>Limborska</LastName><ForeName>Svetlana A</ForeName><Initials>SA</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</Year><Month>09</Month><Day>13</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="C111567">parkin protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005091">Exons</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015321">Gene Rearrangement</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000145">classification</QualifierName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D012426">Russia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2011</Year><Month>1</Month><Day>11</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2011</Year><Month>6</Month><Day>3</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2011</Year><Month>6</Month><Day>16</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2011</Year><Month>9</Month><Day>13</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2011</Year><Month>9</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2011</Year><Month>9</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2012</Year><Month>5</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23901</ArticleId><ArticleId IdType="pubmed">21915905</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Russie</li></country><region><li>District fédéral central</li></region><settlement><li>Moscou</li></settlement></list><tree><noCountry><name sortKey="Bagyeva, Gulbakhar" sort="Bagyeva, Gulbakhar" uniqKey="Bagyeva G" first="Gulbakhar" last="Bagyeva">Gulbakhar Bagyeva</name><name sortKey="Illarioshkin, Sergei N" sort="Illarioshkin, Sergei N" uniqKey="Illarioshkin S" first="Sergei N" last="Illarioshkin">Sergei N. Illarioshkin</name><name sortKey="Ivanova Smolenskaya, Irina A" sort="Ivanova Smolenskaya, Irina A" uniqKey="Ivanova Smolenskaya I" first="Irina A" last="Ivanova-Smolenskaya">Irina A. Ivanova-Smolenskaya</name><name sortKey="Limborska, Svetlana A" sort="Limborska, Svetlana A" uniqKey="Limborska S" first="Svetlana A" last="Limborska">Svetlana A. Limborska</name><name sortKey="Shadrina, Maria I" sort="Shadrina, Maria I" uniqKey="Shadrina M" first="Maria I" last="Shadrina">Maria I. Shadrina</name><name sortKey="Slominsky, Pyotr A" sort="Slominsky, Pyotr A" uniqKey="Slominsky P" first="Pyotr A" last="Slominsky">Pyotr A. Slominsky</name></noCountry><country name="Russie"><region name="District fédéral central"><name sortKey="Semenova, Elena V" sort="Semenova, Elena V" uniqKey="Semenova E" first="Elena V" last="Semenova">Elena V. Semenova</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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