Gene expression changes in blood as a putative biomarker for Huntington's disease.
Identifieur interne : 002844 ( Ncbi/Curation ); précédent : 002843; suivant : 002845Gene expression changes in blood as a putative biomarker for Huntington's disease.
Auteurs : Luca Lovrecic [Slovénie] ; Andrej Kastrin ; Jan Kobal ; Zvezdan Pirtosek ; Dimitri Krainc ; Borut PeterlinSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Adult, Artificial Intelligence, Cohort Studies, Female, Gene Expression (physiology), Gene Expression Profiling, Humans, Huntington Disease (blood), Huntington Disease (genetics), Huntington Disease (physiopathology), Male, Middle Aged, Multivariate Analysis, Oligonucleotide Array Sequence Analysis, Parkinson Disease (blood), Parkinson Disease (genetics), Parkinson Disease (physiopathology), RNA, Messenger, Stroke (blood), Trinucleotide Repeat Expansion (genetics).
- MESH :
- chemical : RNA, Messenger.
- blood : Huntington Disease, Parkinson Disease, Stroke.
- genetics : Huntington Disease, Parkinson Disease, Trinucleotide Repeat Expansion.
- physiology : Gene Expression.
- physiopathology : Huntington Disease, Parkinson Disease.
- Adult, Artificial Intelligence, Cohort Studies, Female, Gene Expression Profiling, Humans, Male, Middle Aged, Multivariate Analysis, Oligonucleotide Array Sequence Analysis.
Abstract
Several studies demonstrated alterations of gene expression in blood in various neurological disorders including Huntington's disease (HD). Using microarray technology, a recent study identified a large number of significantly altered mRNAs in HD blood, from which a 12-gene set was selected as classifier for discriminating controls and HD patients. The aim of our study was to validate expression changes of these 12 genes in an independent cohort of HD patients and evaluate their sensitivity and specificity. Four different subject groups were included--patients with HD, Parkinson's disease (PD), acute ischemic stroke (AS) and healthy controls. Although the previous results were successfully validated, gene expression changes in HD blood partly overlapped with those observed in blood from PD and AS patients. Predictive value of the selected biomarker set for HD group was 78%, with 82% sensitivity and 53% specificity. Further gene expression analyses in longitudinal studies are needed to validate and refine possible transcriptomic blood biomarkers in HD.
DOI: 10.1002/mds.22477
PubMed: 19844910
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Gene expression changes in blood as a putative biomarker for Huntington's disease.</title><author><name sortKey="Lovrecic, Luca" sort="Lovrecic, Luca" uniqKey="Lovrecic L" first="Luca" last="Lovrecic">Luca Lovrecic</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Genetics, University Medical Centre, Ljubljana, Slovenia.</nlm:affiliation><country xml:lang="fr">Slovénie</country><wicri:regionArea>Institute of Medical Genetics, University Medical Centre, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></affiliation></author><author><name sortKey="Kastrin, Andrej" sort="Kastrin, Andrej" uniqKey="Kastrin A" first="Andrej" last="Kastrin">Andrej Kastrin</name></author><author><name sortKey="Kobal, Jan" sort="Kobal, Jan" uniqKey="Kobal J" first="Jan" last="Kobal">Jan Kobal</name></author><author><name sortKey="Pirtosek, Zvezdan" sort="Pirtosek, Zvezdan" uniqKey="Pirtosek Z" first="Zvezdan" last="Pirtosek">Zvezdan Pirtosek</name></author><author><name sortKey="Krainc, Dimitri" sort="Krainc, Dimitri" uniqKey="Krainc D" first="Dimitri" last="Krainc">Dimitri Krainc</name></author><author><name sortKey="Peterlin, Borut" sort="Peterlin, Borut" uniqKey="Peterlin B" first="Borut" last="Peterlin">Borut Peterlin</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22477</idno><idno type="RBID">pubmed:19844910</idno><idno type="pmid">19844910</idno><idno type="wicri:Area/PubMed/Corpus">001B39</idno><idno type="wicri:Area/PubMed/Curation">001B39</idno><idno type="wicri:Area/PubMed/Checkpoint">001D96</idno><idno type="wicri:Area/Ncbi/Merge">002844</idno><idno type="wicri:Area/Ncbi/Curation">002844</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Gene expression changes in blood as a putative biomarker for Huntington's disease.</title><author><name sortKey="Lovrecic, Luca" sort="Lovrecic, Luca" uniqKey="Lovrecic L" first="Luca" last="Lovrecic">Luca Lovrecic</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Genetics, University Medical Centre, Ljubljana, Slovenia.</nlm:affiliation><country xml:lang="fr">Slovénie</country><wicri:regionArea>Institute of Medical Genetics, University Medical Centre, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></affiliation></author><author><name sortKey="Kastrin, Andrej" sort="Kastrin, Andrej" uniqKey="Kastrin A" first="Andrej" last="Kastrin">Andrej Kastrin</name></author><author><name sortKey="Kobal, Jan" sort="Kobal, Jan" uniqKey="Kobal J" first="Jan" last="Kobal">Jan Kobal</name></author><author><name sortKey="Pirtosek, Zvezdan" sort="Pirtosek, Zvezdan" uniqKey="Pirtosek Z" first="Zvezdan" last="Pirtosek">Zvezdan Pirtosek</name></author><author><name sortKey="Krainc, Dimitri" sort="Krainc, Dimitri" uniqKey="Krainc D" first="Dimitri" last="Krainc">Dimitri Krainc</name></author><author><name sortKey="Peterlin, Borut" sort="Peterlin, Borut" uniqKey="Peterlin B" first="Borut" last="Peterlin">Borut Peterlin</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="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Artificial Intelligence</term><term>Cohort Studies</term><term>Female</term><term>Gene Expression (physiology)</term><term>Gene Expression Profiling</term><term>Humans</term><term>Huntington Disease (blood)</term><term>Huntington Disease (genetics)</term><term>Huntington Disease (physiopathology)</term><term>Male</term><term>Middle Aged</term><term>Multivariate Analysis</term><term>Oligonucleotide Array Sequence Analysis</term><term>Parkinson Disease (blood)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>RNA, Messenger</term><term>Stroke (blood)</term><term>Trinucleotide Repeat Expansion (genetics)</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>RNA, Messenger</term></keywords><keywords scheme="MESH" qualifier="blood" xml:lang="en"><term>Huntington Disease</term><term>Parkinson Disease</term><term>Stroke</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term><term>Parkinson Disease</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Gene Expression</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Huntington Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Artificial Intelligence</term><term>Cohort Studies</term><term>Female</term><term>Gene Expression Profiling</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Multivariate Analysis</term><term>Oligonucleotide Array Sequence Analysis</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Several studies demonstrated alterations of gene expression in blood in various neurological disorders including Huntington's disease (HD). Using microarray technology, a recent study identified a large number of significantly altered mRNAs in HD blood, from which a 12-gene set was selected as classifier for discriminating controls and HD patients. The aim of our study was to validate expression changes of these 12 genes in an independent cohort of HD patients and evaluate their sensitivity and specificity. Four different subject groups were included--patients with HD, Parkinson's disease (PD), acute ischemic stroke (AS) and healthy controls. Although the previous results were successfully validated, gene expression changes in HD blood partly overlapped with those observed in blood from PD and AS patients. Predictive value of the selected biomarker set for HD group was 78%, with 82% sensitivity and 53% specificity. Further gene expression analyses in longitudinal studies are needed to validate and refine possible transcriptomic blood biomarkers in HD.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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