Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease.
Identifieur interne : 000F45 ( PubMed/Checkpoint ); précédent : 000F44; suivant : 000F46Analysis 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
Affiliations:
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pubmed:21915905Le document en format XML
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<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>
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</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>
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<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>
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<author><name sortKey="Limborska, Svetlana A" sort="Limborska, Svetlana A" uniqKey="Limborska S" first="Svetlana A" last="Limborska">Svetlana A. Limborska</name>
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<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>
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<author><name sortKey="Shadrina, Maria I" sort="Shadrina, Maria I" uniqKey="Shadrina M" first="Maria I" last="Shadrina">Maria I. Shadrina</name>
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<author><name sortKey="Slominsky, Pyotr A" sort="Slominsky, Pyotr A" uniqKey="Slominsky P" first="Pyotr A" last="Slominsky">Pyotr A. Slominsky</name>
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<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>
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<author><name sortKey="Bagyeva, Gulbakhar" sort="Bagyeva, Gulbakhar" uniqKey="Bagyeva G" first="Gulbakhar" last="Bagyeva">Gulbakhar Bagyeva</name>
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<author><name sortKey="Illarioshkin, Sergei N" sort="Illarioshkin, Sergei N" uniqKey="Illarioshkin S" first="Sergei N" last="Illarioshkin">Sergei N. Illarioshkin</name>
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<author><name sortKey="Limborska, Svetlana A" sort="Limborska, Svetlana A" uniqKey="Limborska S" first="Svetlana A" last="Limborska">Svetlana A. Limborska</name>
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<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>
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<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>
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<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>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<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>
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<Author ValidYN="Y"><LastName>Slominsky</LastName>
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<Author ValidYN="Y"><LastName>Ivanova-Smolenskaya</LastName>
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<Author ValidYN="Y"><LastName>Bagyeva</LastName>
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<Author ValidYN="Y"><LastName>Illarioshkin</LastName>
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<Author ValidYN="Y"><LastName>Limborska</LastName>
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<Language>eng</Language>
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<name sortKey="Illarioshkin, Sergei N" sort="Illarioshkin, Sergei N" uniqKey="Illarioshkin S" first="Sergei N" last="Illarioshkin">Sergei N. Illarioshkin</name>
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<name sortKey="Shadrina, Maria I" sort="Shadrina, Maria I" uniqKey="Shadrina M" first="Maria I" last="Shadrina">Maria I. Shadrina</name>
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