Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.
Identifieur interne : 000681 ( PubMed/Checkpoint ); précédent : 000680; suivant : 000682Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.
Auteurs : Christos Proukakis [Royaume-Uni] ; Maryiam Shoaee ; James Morris ; Timothy Brier ; Eleanna Kara ; Una-Marie Sheerin ; Gavin Charlesworth ; Eduardo Tolosa ; Henry Houlden ; Nicholas W. Wood ; Anthony H. SchapiraSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- Brain (metabolism), Brain (pathology), DNA (metabolism), Female, Genetic Predisposition to Disease (genetics), Genetic Testing, Humans, Lewy Body Disease (complications), Lewy Body Disease (genetics), Lewy Body Disease (pathology), Male, Mutation (genetics), Parkinson Disease (complications), Parkinson Disease (genetics), Parkinson Disease (pathology), alpha-Synuclein (genetics), alpha-Synuclein (metabolism).
- MESH :
- chemical , genetics : alpha-Synuclein.
- chemical , metabolism : DNA, alpha-Synuclein.
- complications : Lewy Body Disease, Parkinson Disease.
- genetics : Genetic Predisposition to Disease, Lewy Body Disease, Mutation, Parkinson Disease.
- metabolism : Brain.
- pathology : Brain, Lewy Body Disease, Parkinson Disease.
- Female, Genetic Testing, Humans, Male.
Abstract
Although alpha-synuclein (SNCA) is crucial to the pathogenesis of Parkinson's disease (PD) and dementia with Lewy bodies (DLB), mutations in the gene appear to be rare. We have recently hypothesized that somatic mutations in early development could contribute to PD.
DOI: 10.1002/mds.25883
PubMed: 24752924
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:24752924Le document en format XML
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Wood</name></author><author><name sortKey="Schapira, Anthony H" sort="Schapira, Anthony H" uniqKey="Schapira A" first="Anthony H" last="Schapira">Anthony H. Schapira</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24752924</idno><idno type="pmid">24752924</idno><idno type="doi">10.1002/mds.25883</idno><idno type="wicri:Area/PubMed/Corpus">000541</idno><idno type="wicri:Area/PubMed/Curation">000541</idno><idno type="wicri:Area/PubMed/Checkpoint">000681</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.</title><author><name sortKey="Proukakis, Christos" sort="Proukakis, Christos" uniqKey="Proukakis C" first="Christos" last="Proukakis">Christos Proukakis</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Neuroscience, Institute of Neurology, University College London, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Neuroscience, Institute of Neurology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Shoaee, Maryiam" sort="Shoaee, Maryiam" uniqKey="Shoaee M" first="Maryiam" last="Shoaee">Maryiam Shoaee</name></author><author><name sortKey="Morris, James" sort="Morris, James" uniqKey="Morris J" first="James" last="Morris">James Morris</name></author><author><name sortKey="Brier, Timothy" sort="Brier, Timothy" uniqKey="Brier T" first="Timothy" last="Brier">Timothy Brier</name></author><author><name sortKey="Kara, Eleanna" sort="Kara, Eleanna" uniqKey="Kara E" first="Eleanna" last="Kara">Eleanna Kara</name></author><author><name sortKey="Sheerin, Una Marie" sort="Sheerin, Una Marie" uniqKey="Sheerin U" first="Una-Marie" last="Sheerin">Una-Marie Sheerin</name></author><author><name sortKey="Charlesworth, Gavin" sort="Charlesworth, Gavin" uniqKey="Charlesworth G" first="Gavin" last="Charlesworth">Gavin Charlesworth</name></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></author><author><name sortKey="Schapira, Anthony H" sort="Schapira, Anthony H" uniqKey="Schapira A" first="Anthony H" last="Schapira">Anthony H. Schapira</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="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (metabolism)</term><term>Brain (pathology)</term><term>DNA (metabolism)</term><term>Female</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genetic Testing</term><term>Humans</term><term>Lewy Body Disease (complications)</term><term>Lewy Body Disease (genetics)</term><term>Lewy Body Disease (pathology)</term><term>Male</term><term>Mutation (genetics)</term><term>Parkinson Disease (complications)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (pathology)</term><term>alpha-Synuclein (genetics)</term><term>alpha-Synuclein (metabolism)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>DNA</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Lewy Body Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term><term>Lewy Body Disease</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Lewy Body Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Male</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Although alpha-synuclein (SNCA) is crucial to the pathogenesis of Parkinson's disease (PD) and dementia with Lewy bodies (DLB), mutations in the gene appear to be rare. We have recently hypothesized that somatic mutations in early development could contribute to PD.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">24752924</PMID><DateCreated><Year>2014</Year><Month>07</Month><Day>21</Day></DateCreated><DateCompleted><Year>2015</Year><Month>03</Month><Day>30</Day></DateCompleted><DateRevised><Year>2015</Year><Month>01</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>29</Volume><Issue>8</Issue><PubDate><Year>2014</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.</ArticleTitle><Pagination><MedlinePgn>1060-4</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25883</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Although alpha-synuclein (SNCA) is crucial to the pathogenesis of Parkinson's disease (PD) and dementia with Lewy bodies (DLB), mutations in the gene appear to be rare. We have recently hypothesized that somatic mutations in early development could contribute to PD.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Expanding on our recent negative small study, we used high-resolution melting (HRM) analysis to screen SNCA coding exons for somatic point mutations in DNA from 539 PD and DLB cerebellar samples, with two additional regions (frontal cortex, substantia nigra) for 20 PD cases. We used artificial mosaics to determine sensitivity where possible.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">We did not detect any evidence of somatic coding mutations. Three cases were heterozygous for known silent polymorphisms. The protocol we used was sensitive enough to detect 5% to 10% mutant DNA.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">Using DNA predominantly from cerebellum, but also from frontal cortex and substantia nigra (n = 20 each), we have not detected any somatic coding SNCA point mutations.</AbstractText><CopyrightInformation>© 2014 The Authors. International Parkinson and Movement Disorder Society published by Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Proukakis</LastName><ForeName>Christos</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Clinical Neuroscience, Institute of Neurology, University College London, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shoaee</LastName><ForeName>Maryiam</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Morris</LastName><ForeName>James</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Brier</LastName><ForeName>Timothy</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Kara</LastName><ForeName>Eleanna</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Sheerin</LastName><ForeName>Una-Marie</ForeName><Initials>UM</Initials></Author><Author ValidYN="Y"><LastName>Charlesworth</LastName><ForeName>Gavin</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Tolosa</LastName><ForeName>Eduardo</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Houlden</LastName><ForeName>Henry</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Wood</LastName><ForeName>Nicholas W</ForeName><Initials>NW</Initials></Author><Author ValidYN="Y"><LastName>Schapira</LastName><ForeName>Anthony H</ForeName><Initials>AH</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>089698</GrantID><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G-1107</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0802760</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G1100479</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>J-0804</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>K-1111</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>MC_G0901330</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>MC_G1000735</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>WT089698</GrantID><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>04</Month><Day>21</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov 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Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020961">Lewy Body Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051844">alpha-Synuclein</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">EMS58478</OtherID><OtherID Source="NLM">PMC4190821</OtherID><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">SNCA</Keyword><Keyword MajorTopicYN="N">alpha-synuclein</Keyword><Keyword MajorTopicYN="N">etiology of Parkinson's disease</Keyword><Keyword MajorTopicYN="N">mosaicism</Keyword><Keyword MajorTopicYN="N">somatic mutation</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year><Month>12</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2014</Year><Month>2</Month><Day>16</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2014</Year><Month>3</Month><Day>6</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2014</Year><Month>4</Month><Day>21</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>4</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>4</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>3</Month><Day>31</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">24752924</ArticleId><ArticleId IdType="doi">10.1002/mds.25883</ArticleId><ArticleId IdType="pmc">PMC4190821</ArticleId><ArticleId IdType="mid">EMS58478</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><name sortKey="Brier, Timothy" sort="Brier, Timothy" uniqKey="Brier T" first="Timothy" last="Brier">Timothy Brier</name><name sortKey="Charlesworth, Gavin" sort="Charlesworth, Gavin" uniqKey="Charlesworth G" first="Gavin" last="Charlesworth">Gavin Charlesworth</name><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><name sortKey="Kara, Eleanna" sort="Kara, Eleanna" uniqKey="Kara E" first="Eleanna" last="Kara">Eleanna Kara</name><name sortKey="Morris, James" sort="Morris, James" uniqKey="Morris J" first="James" last="Morris">James Morris</name><name sortKey="Schapira, Anthony H" sort="Schapira, Anthony H" uniqKey="Schapira A" first="Anthony H" last="Schapira">Anthony H. Schapira</name><name sortKey="Sheerin, Una Marie" sort="Sheerin, Una Marie" uniqKey="Sheerin U" first="Una-Marie" last="Sheerin">Una-Marie Sheerin</name><name sortKey="Shoaee, Maryiam" sort="Shoaee, Maryiam" uniqKey="Shoaee M" first="Maryiam" last="Shoaee">Maryiam Shoaee</name><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Proukakis, Christos" sort="Proukakis, Christos" uniqKey="Proukakis C" first="Christos" last="Proukakis">Christos Proukakis</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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