Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease.
Identifieur interne : 000007 ( PubMed/Corpus ); précédent : 000006; suivant : 000008Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease.
Auteurs : Elisa Rubino ; Livia Brusa ; Ming Zhang ; Silvia Boschi ; Flora Govone ; Alessandro Vacca ; Annalisa Gai ; Lorenzo Pinessi ; Leonardo Lopiano ; Ekaterina Rogaeva ; Innocenzo RaineroSource :
- Neurobiology of aging [ 1558-1497 ] ; 2017.
Abstract
In recent years, CHCHD2 and CHCHD10 mutations were reported to be associated with a broad spectrum of neurodegenerative diseases, including Parkinson's disease (PD), although with conflicting results in different populations. The present study aimed to evaluate CHCHD2 and CHCHD10 coding variants in Italian patients with PD. All the coding regions and flanking intronic splice sites of CHCHD2 and CHCHD10 were sequenced. None of our 119 PD cases carried CHCHD2 mutations, whereas 1 sporadic PD patient showed the Pro34Ser substitution in CHCHD10. Our data suggest that CHCHD2 and CHCDH10 mutations are not a relevant cause of PD in Italian population.
DOI: 10.1016/j.neurobiolaging.2016.12.027
PubMed: 28108040
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Eugenio Hospital, Rome, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Zhang, Ming" sort="Zhang, Ming" uniqKey="Zhang M" first="Ming" last="Zhang">Ming Zhang</name><affiliation><nlm:affiliation>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Boschi, Silvia" sort="Boschi, Silvia" uniqKey="Boschi S" first="Silvia" last="Boschi">Silvia Boschi</name><affiliation><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Govone, Flora" sort="Govone, Flora" uniqKey="Govone F" first="Flora" last="Govone">Flora Govone</name><affiliation><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Vacca, Alessandro" sort="Vacca, Alessandro" uniqKey="Vacca A" first="Alessandro" last="Vacca">Alessandro Vacca</name><affiliation><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Gai, Annalisa" sort="Gai, Annalisa" uniqKey="Gai A" first="Annalisa" last="Gai">Annalisa Gai</name><affiliation><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Pinessi, Lorenzo" sort="Pinessi, Lorenzo" uniqKey="Pinessi L" first="Lorenzo" last="Pinessi">Lorenzo Pinessi</name><affiliation><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Lopiano, Leonardo" sort="Lopiano, Leonardo" uniqKey="Lopiano L" first="Leonardo" last="Lopiano">Leonardo Lopiano</name><affiliation><nlm:affiliation>Neurology 2, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza di Torino, Torino, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation><nlm:affiliation>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada; Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Rainero, Innocenzo" sort="Rainero, Innocenzo" uniqKey="Rainero I" first="Innocenzo" last="Rainero">Innocenzo Rainero</name><affiliation><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy; Neurology 1, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza di Torino, Torino, Italy.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28108040</idno><idno type="pmid">28108040</idno><idno type="doi">10.1016/j.neurobiolaging.2016.12.027</idno><idno type="wicri:Area/PubMed/Corpus">000007</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000007</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease.</title><author><name sortKey="Rubino, Elisa" sort="Rubino, Elisa" uniqKey="Rubino E" first="Elisa" last="Rubino">Elisa Rubino</name><affiliation><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy. Electronic address: elisa.rubino@unito.it.</nlm:affiliation></affiliation></author><author><name sortKey="Brusa, Livia" sort="Brusa, Livia" uniqKey="Brusa L" first="Livia" last="Brusa">Livia Brusa</name><affiliation><nlm:affiliation>UOC Neurologia S. Eugenio Hospital, Rome, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Zhang, Ming" sort="Zhang, Ming" uniqKey="Zhang M" first="Ming" last="Zhang">Ming Zhang</name><affiliation><nlm:affiliation>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Boschi, Silvia" sort="Boschi, Silvia" uniqKey="Boschi S" first="Silvia" last="Boschi">Silvia Boschi</name><affiliation><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Govone, Flora" sort="Govone, Flora" uniqKey="Govone F" first="Flora" last="Govone">Flora Govone</name><affiliation><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Vacca, Alessandro" sort="Vacca, Alessandro" uniqKey="Vacca A" first="Alessandro" last="Vacca">Alessandro Vacca</name><affiliation><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Gai, Annalisa" sort="Gai, Annalisa" uniqKey="Gai A" first="Annalisa" last="Gai">Annalisa Gai</name><affiliation><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Pinessi, Lorenzo" sort="Pinessi, Lorenzo" uniqKey="Pinessi L" first="Lorenzo" last="Pinessi">Lorenzo Pinessi</name><affiliation><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Lopiano, Leonardo" sort="Lopiano, Leonardo" uniqKey="Lopiano L" first="Leonardo" last="Lopiano">Leonardo Lopiano</name><affiliation><nlm:affiliation>Neurology 2, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza di Torino, Torino, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation><nlm:affiliation>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada; Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Rainero, Innocenzo" sort="Rainero, Innocenzo" uniqKey="Rainero I" first="Innocenzo" last="Rainero">Innocenzo Rainero</name><affiliation><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy; Neurology 1, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza di Torino, Torino, Italy.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Neurobiology of aging</title><idno type="eISSN">1558-1497</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In recent years, CHCHD2 and CHCHD10 mutations were reported to be associated with a broad spectrum of neurodegenerative diseases, including Parkinson's disease (PD), although with conflicting results in different populations. The present study aimed to evaluate CHCHD2 and CHCHD10 coding variants in Italian patients with PD. All the coding regions and flanking intronic splice sites of CHCHD2 and CHCHD10 were sequenced. None of our 119 PD cases carried CHCHD2 mutations, whereas 1 sporadic PD patient showed the Pro34Ser substitution in CHCHD10. Our data suggest that CHCHD2 and CHCDH10 mutations are not a relevant cause of PD in Italian population.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">28108040</PMID><DateCreated><Year>2017</Year><Month>01</Month><Day>21</Day></DateCreated><DateRevised><Year>2017</Year><Month>04</Month><Day>09</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1558-1497</ISSN><JournalIssue CitedMedium="Internet"><Volume>53</Volume><PubDate><Year>2017</Year><Month>May</Month></PubDate></JournalIssue><Title>Neurobiology of aging</Title><ISOAbbreviation>Neurobiol. Aging</ISOAbbreviation></Journal><ArticleTitle>Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>193.e7-193.e8</MedlinePgn></Pagination><ELocationID EIdType="pii" ValidYN="Y">S0197-4580(16)30340-2</ELocationID><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.neurobiolaging.2016.12.027</ELocationID><Abstract><AbstractText>In recent years, CHCHD2 and CHCHD10 mutations were reported to be associated with a broad spectrum of neurodegenerative diseases, including Parkinson's disease (PD), although with conflicting results in different populations. The present study aimed to evaluate CHCHD2 and CHCHD10 coding variants in Italian patients with PD. All the coding regions and flanking intronic splice sites of CHCHD2 and CHCHD10 were sequenced. None of our 119 PD cases carried CHCHD2 mutations, whereas 1 sporadic PD patient showed the Pro34Ser substitution in CHCHD10. Our data suggest that CHCHD2 and CHCDH10 mutations are not a relevant cause of PD in Italian population.</AbstractText><CopyrightInformation>Copyright © 2017 Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Rubino</LastName><ForeName>Elisa</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy. Electronic address: elisa.rubino@unito.it.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brusa</LastName><ForeName>Livia</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>UOC Neurologia S. Eugenio Hospital, Rome, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Ming</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boschi</LastName><ForeName>Silvia</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Govone</LastName><ForeName>Flora</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vacca</LastName><ForeName>Alessandro</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gai</LastName><ForeName>Annalisa</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pinessi</LastName><ForeName>Lorenzo</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lopiano</LastName><ForeName>Leonardo</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Neurology 2, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza di Torino, Torino, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rogaeva</LastName><ForeName>Ekaterina</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada; Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rainero</LastName><ForeName>Innocenzo</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy; Neurology 1, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza di Torino, Torino, Italy.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>01</Month><Day>05</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Neurobiol Aging</MedlineTA><NlmUniqueID>8100437</NlmUniqueID><ISSNLinking>0197-4580</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">CHCHD10</Keyword><Keyword MajorTopicYN="N">CHCHD2</Keyword><Keyword MajorTopicYN="N">Italian</Keyword><Keyword MajorTopicYN="N">Mitochondria-associated gene</Keyword><Keyword MajorTopicYN="N">Parkinson's disease</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>11</Month><Day>07</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>12</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>1</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>1</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>1</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28108040</ArticleId><ArticleId IdType="pii">S0197-4580(16)30340-2</ArticleId><ArticleId IdType="doi">10.1016/j.neurobiolaging.2016.12.027</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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