Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease.
Identifieur interne : 000177 ( PubMed/Corpus ); précédent : 000176; suivant : 000178Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease.
Auteurs : Mafalda Raposo ; Conceição Bettencourt ; Patrícia Maciel ; Fuying Gao ; Amanda Ramos ; Nadiya Kazachkova ; João Vasconcelos ; Teresa Kay ; Ana João Rodrigues ; Bruno Bettencourt ; Jácome Bruges-Armas ; Daniel Geschwind ; Giovanni Coppola ; Manuela LimaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Abstract
Machado-Joseph disease (or spinocerebellar ataxia type 3) is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin-3. Previous studies on cell and animal models have suggested that mutated ataxin-3 is involved in transcriptional dysregulation. Starting with a whole-transcriptome profiling of peripheral blood samples from patients and controls, we aimed to confirm abnormal expression profiles in Machado-Joseph disease and to identify promising up-regulated genes as potential candidate biomarkers of disease status.
DOI: 10.1002/mds.26238
PubMed: 25914309
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease.</title><author><name sortKey="Raposo, Mafalda" sort="Raposo, Mafalda" uniqKey="Raposo M" first="Mafalda" last="Raposo">Mafalda Raposo</name><affiliation><nlm:affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Bettencourt, Conceicao" sort="Bettencourt, Conceicao" uniqKey="Bettencourt C" first="Conceição" last="Bettencourt">Conceição Bettencourt</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Maciel, Patricia" sort="Maciel, Patricia" uniqKey="Maciel P" first="Patrícia" last="Maciel">Patrícia Maciel</name><affiliation><nlm:affiliation>Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Gao, Fuying" sort="Gao, Fuying" uniqKey="Gao F" first="Fuying" last="Gao">Fuying Gao</name><affiliation><nlm:affiliation>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Ramos, Amanda" sort="Ramos, Amanda" uniqKey="Ramos A" first="Amanda" last="Ramos">Amanda Ramos</name><affiliation><nlm:affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Kazachkova, Nadiya" sort="Kazachkova, Nadiya" uniqKey="Kazachkova N" first="Nadiya" last="Kazachkova">Nadiya Kazachkova</name><affiliation><nlm:affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Vasconcelos, Joao" sort="Vasconcelos, Joao" uniqKey="Vasconcelos J" first="João" last="Vasconcelos">João Vasconcelos</name><affiliation><nlm:affiliation>Department of Neurology, Hospital do Divino Espírito Santo, Ponta Delgada, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Kay, Teresa" sort="Kay, Teresa" uniqKey="Kay T" first="Teresa" last="Kay">Teresa Kay</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Hospital of D. Estefania, Lisbon, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Rodrigues, Ana Joao" sort="Rodrigues, Ana Joao" uniqKey="Rodrigues A" first="Ana João" last="Rodrigues">Ana João Rodrigues</name><affiliation><nlm:affiliation>Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Bettencourt, Bruno" sort="Bettencourt, Bruno" uniqKey="Bettencourt B" first="Bruno" last="Bettencourt">Bruno Bettencourt</name><affiliation><nlm:affiliation>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Bruges Armas, Jacome" sort="Bruges Armas, Jacome" uniqKey="Bruges Armas J" first="Jácome" last="Bruges-Armas">Jácome Bruges-Armas</name><affiliation><nlm:affiliation>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Geschwind, Daniel" sort="Geschwind, Daniel" uniqKey="Geschwind D" first="Daniel" last="Geschwind">Daniel Geschwind</name><affiliation><nlm:affiliation>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Coppola, Giovanni" sort="Coppola, Giovanni" uniqKey="Coppola G" first="Giovanni" last="Coppola">Giovanni Coppola</name><affiliation><nlm:affiliation>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Lima, Manuela" sort="Lima, Manuela" uniqKey="Lima M" first="Manuela" last="Lima">Manuela Lima</name><affiliation><nlm:affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25914309</idno><idno type="pmid">25914309</idno><idno type="doi">10.1002/mds.26238</idno><idno type="wicri:Area/PubMed/Corpus">000177</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease.</title><author><name sortKey="Raposo, Mafalda" sort="Raposo, Mafalda" uniqKey="Raposo M" first="Mafalda" last="Raposo">Mafalda Raposo</name><affiliation><nlm:affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Bettencourt, Conceicao" sort="Bettencourt, Conceicao" uniqKey="Bettencourt C" first="Conceição" last="Bettencourt">Conceição Bettencourt</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Maciel, Patricia" sort="Maciel, Patricia" uniqKey="Maciel P" first="Patrícia" last="Maciel">Patrícia Maciel</name><affiliation><nlm:affiliation>Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Gao, Fuying" sort="Gao, Fuying" uniqKey="Gao F" first="Fuying" last="Gao">Fuying Gao</name><affiliation><nlm:affiliation>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Ramos, Amanda" sort="Ramos, Amanda" uniqKey="Ramos A" first="Amanda" last="Ramos">Amanda Ramos</name><affiliation><nlm:affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Kazachkova, Nadiya" sort="Kazachkova, Nadiya" uniqKey="Kazachkova N" first="Nadiya" last="Kazachkova">Nadiya Kazachkova</name><affiliation><nlm:affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Vasconcelos, Joao" sort="Vasconcelos, Joao" uniqKey="Vasconcelos J" first="João" last="Vasconcelos">João Vasconcelos</name><affiliation><nlm:affiliation>Department of Neurology, Hospital do Divino Espírito Santo, Ponta Delgada, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Kay, Teresa" sort="Kay, Teresa" uniqKey="Kay T" first="Teresa" last="Kay">Teresa Kay</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Hospital of D. Estefania, Lisbon, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Rodrigues, Ana Joao" sort="Rodrigues, Ana Joao" uniqKey="Rodrigues A" first="Ana João" last="Rodrigues">Ana João Rodrigues</name><affiliation><nlm:affiliation>Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Bettencourt, Bruno" sort="Bettencourt, Bruno" uniqKey="Bettencourt B" first="Bruno" last="Bettencourt">Bruno Bettencourt</name><affiliation><nlm:affiliation>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Bruges Armas, Jacome" sort="Bruges Armas, Jacome" uniqKey="Bruges Armas J" first="Jácome" last="Bruges-Armas">Jácome Bruges-Armas</name><affiliation><nlm:affiliation>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Geschwind, Daniel" sort="Geschwind, Daniel" uniqKey="Geschwind D" first="Daniel" last="Geschwind">Daniel Geschwind</name><affiliation><nlm:affiliation>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Coppola, Giovanni" sort="Coppola, Giovanni" uniqKey="Coppola G" first="Giovanni" last="Coppola">Giovanni Coppola</name><affiliation><nlm:affiliation>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Lima, Manuela" sort="Lima, Manuela" uniqKey="Lima M" first="Manuela" last="Lima">Manuela Lima</name><affiliation><nlm:affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</nlm:affiliation></affiliation></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="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Machado-Joseph disease (or spinocerebellar ataxia type 3) is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin-3. Previous studies on cell and animal models have suggested that mutated ataxin-3 is involved in transcriptional dysregulation. Starting with a whole-transcriptome profiling of peripheral blood samples from patients and controls, we aimed to confirm abnormal expression profiles in Machado-Joseph disease and to identify promising up-regulated genes as potential candidate biomarkers of disease status.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="In-Process"><PMID Version="1">25914309</PMID><DateCreated><Year>2015</Year><Month>06</Month><Day>23</Day></DateCreated><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>30</Volume><Issue>7</Issue><PubDate><Year>2015</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease.</ArticleTitle><Pagination><MedlinePgn>968-75</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26238</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Machado-Joseph disease (or spinocerebellar ataxia type 3) is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin-3. Previous studies on cell and animal models have suggested that mutated ataxin-3 is involved in transcriptional dysregulation. Starting with a whole-transcriptome profiling of peripheral blood samples from patients and controls, we aimed to confirm abnormal expression profiles in Machado-Joseph disease and to identify promising up-regulated genes as potential candidate biomarkers of disease status.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">The Illumina Human V4-HT12 array was used to measure transcriptome-wide gene expression in peripheral blood samples from 12 patients and 12 controls. Technical validation and validation in an independent set of samples were performed by quantitative real-time polymerase chain reaction (PCR).</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Based on the results from the microarray, twenty six genes, found to be up-regulated in patients, were selected for technical validation by quantitative real-time PCR (validation rate of 81% for the up-regulation trend). Fourteen of these were further tested in an independent set of 42 patients and 35 controls; 10 genes maintained the up-regulation trend (FCGR3B, CSR2RA, CLC, TNFSF14, SLA, P2RY13, FPR2, SELPLG, YIPF6, and GPR96); FCGR3B, P2RY13, and SELPLG were significantly up-regulated in patients when compared with controls.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Our findings support the hypothesis that mutated ataxin-3 is associated with transcription dysregulation, detectable in peripheral blood cells. Furthermore, this is the first report suggesting a pool of up-regulated genes in Machado-Joseph disease that may have the potential to be used for fine phenotyping of this disease. © 2015 International Parkinson and Movement Disorder Society.</AbstractText><CopyrightInformation>© 2015 International Parkinson and Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Raposo</LastName><ForeName>Mafalda</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bettencourt</LastName><ForeName>Conceição</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Maciel</LastName><ForeName>Patrícia</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gao</LastName><ForeName>Fuying</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ramos</LastName><ForeName>Amanda</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kazachkova</LastName><ForeName>Nadiya</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vasconcelos</LastName><ForeName>João</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Neurology, Hospital do Divino Espírito Santo, Ponta Delgada, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kay</LastName><ForeName>Teresa</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Hospital of D. Estefania, Lisbon, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rodrigues</LastName><ForeName>Ana João</ForeName><Initials>AJ</Initials><AffiliationInfo><Affiliation>Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bettencourt</LastName><ForeName>Bruno</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Hospital de Santo Espírito da Ilha Terceira, SEEBMO, Angra do Heroísmo, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bruges-Armas</LastName><ForeName>Jácome</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Hospital de Santo Espírito da Ilha Terceira, SEEBMO, Angra do Heroísmo, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Geschwind</LastName><ForeName>Daniel</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Coppola</LastName><ForeName>Giovanni</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lima</LastName><ForeName>Manuela</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><Agency>Medical Research Council</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>2015</Year><Month>04</Month><Day>25</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">ataxin-3</Keyword><Keyword MajorTopicYN="N">gene expression</Keyword><Keyword MajorTopicYN="N">microarray</Keyword><Keyword MajorTopicYN="N">polyglutamine disease</Keyword><Keyword MajorTopicYN="N">spinocerebellar ataxia type 3</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year><Month>10</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2015</Year><Month>1</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>3</Month><Day>2</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2015</Year><Month>4</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>4</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>4</Month><Day>29</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>4</Month><Day>29</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25914309</ArticleId><ArticleId IdType="doi">10.1002/mds.26238</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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