Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease.
Identifieur interne : 000081 ( Main/Exploration ); précédent : 000080; suivant : 000082Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease.
Auteurs : Elisa Rubino [Italie] ; Livia Brusa [Italie] ; Ming Zhang [Canada] ; Silvia Boschi [Italie] ; Flora Govone [Italie] ; Alessandro Vacca [Italie] ; Annalisa Gai [Italie] ; Lorenzo Pinessi [Italie] ; Leonardo Lopiano [Italie] ; Ekaterina Rogaeva [Canada] ; Innocenzo Rainero [Italie]Source :
- 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
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000007
- to stream PubMed, to step Curation: 000007
- to stream PubMed, to step Checkpoint: 000007
- to stream Ncbi, to step Merge: 002194
- to stream Ncbi, to step Curation: 002194
- to stream Ncbi, to step Checkpoint: 002194
- to stream Main, to step Merge: 000081
- to stream Main, to step Curation: 000081
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><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 wicri:level="3"><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy. Electronic address: elisa.rubino@unito.it.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Brusa, Livia" sort="Brusa, Livia" uniqKey="Brusa L" first="Livia" last="Brusa">Livia Brusa</name><affiliation wicri:level="3"><nlm:affiliation>UOC Neurologia S. Eugenio Hospital, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>UOC Neurologia S. Eugenio Hospital, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Zhang, Ming" sort="Zhang, Ming" uniqKey="Zhang M" first="Ming" last="Zhang">Ming Zhang</name><affiliation wicri:level="4"><nlm:affiliation>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Boschi, Silvia" sort="Boschi, Silvia" uniqKey="Boschi S" first="Silvia" last="Boschi">Silvia Boschi</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Govone, Flora" sort="Govone, Flora" uniqKey="Govone F" first="Flora" last="Govone">Flora Govone</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Vacca, Alessandro" sort="Vacca, Alessandro" uniqKey="Vacca A" first="Alessandro" last="Vacca">Alessandro Vacca</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Gai, Annalisa" sort="Gai, Annalisa" uniqKey="Gai A" first="Annalisa" last="Gai">Annalisa Gai</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Pinessi, Lorenzo" sort="Pinessi, Lorenzo" uniqKey="Pinessi L" first="Lorenzo" last="Pinessi">Lorenzo Pinessi</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Lopiano, Leonardo" sort="Lopiano, Leonardo" uniqKey="Lopiano L" first="Leonardo" last="Lopiano">Leonardo Lopiano</name><affiliation wicri:level="3"><nlm:affiliation>Neurology 2, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza di Torino, Torino, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Neurology 2, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza di Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation wicri:level="4"><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><country xml:lang="fr">Canada</country><wicri:regionArea>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</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Rainero, Innocenzo" sort="Rainero, Innocenzo" uniqKey="Rainero I" first="Innocenzo" last="Rainero">Innocenzo Rainero</name><affiliation wicri:level="3"><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><country xml:lang="fr">Italie</country><wicri:regionArea>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</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></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><idno type="wicri:Area/PubMed/Curation">000007</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000007</idno><idno type="wicri:Area/PubMed/Checkpoint">000007</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000007</idno><idno type="wicri:Area/Ncbi/Merge">002194</idno><idno type="wicri:Area/Ncbi/Curation">002194</idno><idno type="wicri:Area/Ncbi/Checkpoint">002194</idno><idno type="wicri:Area/Main/Merge">000081</idno><idno type="wicri:Area/Main/Curation">000081</idno><idno type="wicri:Area/Main/Exploration">000081</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 wicri:level="3"><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy. Electronic address: elisa.rubino@unito.it.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Brusa, Livia" sort="Brusa, Livia" uniqKey="Brusa L" first="Livia" last="Brusa">Livia Brusa</name><affiliation wicri:level="3"><nlm:affiliation>UOC Neurologia S. Eugenio Hospital, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>UOC Neurologia S. Eugenio Hospital, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Zhang, Ming" sort="Zhang, Ming" uniqKey="Zhang M" first="Ming" last="Zhang">Ming Zhang</name><affiliation wicri:level="4"><nlm:affiliation>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Boschi, Silvia" sort="Boschi, Silvia" uniqKey="Boschi S" first="Silvia" last="Boschi">Silvia Boschi</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Govone, Flora" sort="Govone, Flora" uniqKey="Govone F" first="Flora" last="Govone">Flora Govone</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Vacca, Alessandro" sort="Vacca, Alessandro" uniqKey="Vacca A" first="Alessandro" last="Vacca">Alessandro Vacca</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Gai, Annalisa" sort="Gai, Annalisa" uniqKey="Gai A" first="Annalisa" last="Gai">Annalisa Gai</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Pinessi, Lorenzo" sort="Pinessi, Lorenzo" uniqKey="Pinessi L" first="Lorenzo" last="Pinessi">Lorenzo Pinessi</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Lopiano, Leonardo" sort="Lopiano, Leonardo" uniqKey="Lopiano L" first="Leonardo" last="Lopiano">Leonardo Lopiano</name><affiliation wicri:level="3"><nlm:affiliation>Neurology 2, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza di Torino, Torino, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Neurology 2, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza di Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation wicri:level="4"><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><country xml:lang="fr">Canada</country><wicri:regionArea>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</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Rainero, Innocenzo" sort="Rainero, Innocenzo" uniqKey="Rainero I" first="Innocenzo" last="Rainero">Innocenzo Rainero</name><affiliation wicri:level="3"><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><country xml:lang="fr">Italie</country><wicri:regionArea>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</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></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><affiliations><list><country><li>Canada</li><li>Italie</li></country><region><li>Latium</li><li>Ontario</li><li>Piémont</li></region><settlement><li>Rome</li><li>Toronto</li><li>Turin</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Italie"><region name="Piémont"><name sortKey="Rubino, Elisa" sort="Rubino, Elisa" uniqKey="Rubino E" first="Elisa" last="Rubino">Elisa Rubino</name></region><name sortKey="Boschi, Silvia" sort="Boschi, Silvia" uniqKey="Boschi S" first="Silvia" last="Boschi">Silvia Boschi</name><name sortKey="Brusa, Livia" sort="Brusa, Livia" uniqKey="Brusa L" first="Livia" last="Brusa">Livia Brusa</name><name sortKey="Gai, Annalisa" sort="Gai, Annalisa" uniqKey="Gai A" first="Annalisa" last="Gai">Annalisa Gai</name><name sortKey="Govone, Flora" sort="Govone, Flora" uniqKey="Govone F" first="Flora" last="Govone">Flora Govone</name><name sortKey="Lopiano, Leonardo" sort="Lopiano, Leonardo" uniqKey="Lopiano L" first="Leonardo" last="Lopiano">Leonardo Lopiano</name><name sortKey="Pinessi, Lorenzo" sort="Pinessi, Lorenzo" uniqKey="Pinessi L" first="Lorenzo" last="Pinessi">Lorenzo Pinessi</name><name sortKey="Rainero, Innocenzo" sort="Rainero, Innocenzo" uniqKey="Rainero I" first="Innocenzo" last="Rainero">Innocenzo Rainero</name><name sortKey="Vacca, Alessandro" sort="Vacca, Alessandro" uniqKey="Vacca A" first="Alessandro" last="Vacca">Alessandro Vacca</name></country><country name="Canada"><region name="Ontario"><name sortKey="Zhang, Ming" sort="Zhang, Ming" uniqKey="Zhang M" first="Ming" last="Zhang">Ming Zhang</name></region><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000081 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000081 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Canada
|area= ParkinsonCanadaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:28108040
|texte= Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:28108040" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a ParkinsonCanadaV1
| This area was generated with Dilib version V0.6.29. |  |