Glucocerebrosidase activity in Parkinson’s disease with and without GBA mutations
Identifieur interne : 000029 ( Pmc/Curation ); précédent : 000028; suivant : 000030Glucocerebrosidase activity in Parkinson’s disease with and without GBA mutations
Auteurs : Roy N. Alcalay [États-Unis] ; Oren A. Levy [États-Unis] ; Cheryl C. Waters [États-Unis] ; Stanley Fahn [États-Unis] ; Blair Ford [États-Unis] ; Sheng-Han Kuo [États-Unis] ; Pietro Mazzoni [États-Unis] ; Michael W. Pauciulo [États-Unis] ; William C. Nichols [États-Unis] ; Ziv Gan-Or [Canada] ; Guy A. Rouleau [Canada] ; Wendy K. Chung [États-Unis] ; Pavlina Wolf [États-Unis] ; Petra Oliva [États-Unis] ; Joan Keutzer [États-Unis] ; Karen Marder [États-Unis] ; Xiaokui Zhang [États-Unis]Source :
- Brain [ 0006-8950 ] ; 2015.
Abstract
Glucocerebrosidase (
Url:
DOI: 10.1093/brain/awv179
PubMed: 26117366
PubMed Central: 4564023
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<author><name sortKey="Kuo, Sheng Han" sort="Kuo, Sheng Han" uniqKey="Kuo S" first="Sheng-Han" last="Kuo">Sheng-Han Kuo</name>
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<author><name sortKey="Mazzoni, Pietro" sort="Mazzoni, Pietro" uniqKey="Mazzoni P" first="Pietro" last="Mazzoni">Pietro Mazzoni</name>
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<author><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name>
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<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
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<author><name sortKey="Oliva, Petra" sort="Oliva, Petra" uniqKey="Oliva P" first="Petra" last="Oliva">Petra Oliva</name>
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<author><name sortKey="Keutzer, Joan" sort="Keutzer, Joan" uniqKey="Keutzer J" first="Joan" last="Keutzer">Joan Keutzer</name>
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</affiliation>
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<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Zhang, Xiaokui" sort="Zhang, Xiaokui" uniqKey="Zhang X" first="Xiaokui" last="Zhang">Xiaokui Zhang</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Glucocerebrosidase activity in Parkinson’s disease with and without <italic>GBA</italic>
mutations</title>
<author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N." last="Alcalay">Roy N. Alcalay</name>
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<author><name sortKey="Levy, Oren A" sort="Levy, Oren A" uniqKey="Levy O" first="Oren A." last="Levy">Oren A. Levy</name>
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<author><name sortKey="Waters, Cheryl C" sort="Waters, Cheryl C" uniqKey="Waters C" first="Cheryl C." last="Waters">Cheryl C. Waters</name>
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<author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name>
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<author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name>
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<author><name sortKey="Kuo, Sheng Han" sort="Kuo, Sheng Han" uniqKey="Kuo S" first="Sheng-Han" last="Kuo">Sheng-Han Kuo</name>
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<author><name sortKey="Mazzoni, Pietro" sort="Mazzoni, Pietro" uniqKey="Mazzoni P" first="Pietro" last="Mazzoni">Pietro Mazzoni</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea>
</affiliation>
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<author><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name>
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<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
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<author><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name>
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<author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC</wicri:regionArea>
</affiliation>
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<author><name sortKey="Chung, Wendy K" sort="Chung, Wendy K" uniqKey="Chung W" first="Wendy K." last="Chung">Wendy K. Chung</name>
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<author><name sortKey="Wolf, Pavlina" sort="Wolf, Pavlina" uniqKey="Wolf P" first="Pavlina" last="Wolf">Pavlina Wolf</name>
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<author><name sortKey="Oliva, Petra" sort="Oliva, Petra" uniqKey="Oliva P" first="Petra" last="Oliva">Petra Oliva</name>
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</affiliation>
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<author><name sortKey="Keutzer, Joan" sort="Keutzer, Joan" uniqKey="Keutzer J" first="Joan" last="Keutzer">Joan Keutzer</name>
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<author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name>
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</affiliation>
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</affiliation>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>7 Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY</wicri:regionArea>
</affiliation>
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<author><name sortKey="Zhang, Xiaokui" sort="Zhang, Xiaokui" uniqKey="Zhang X" first="Xiaokui" last="Zhang">Xiaokui Zhang</name>
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<country xml:lang="fr">États-Unis</country>
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<front><div type="abstract" xml:lang="en"><p>Glucocerebrosidase (<italic>GBA</italic>
) mutations are common risk factors for Parkinson’s disease. Alcalay <italic>et al.</italic>
measure glucocerebrosidase enzymatic activity in dried blood spots from patients with Parkinson’s disease with and without <italic>GBA</italic>
mutations, and controls. Low glucocerebrosidase enzymatic activity is strongly associated with <italic>GBA</italic>
mutations, and modestly associated with idiopathic Parkinson’s disease.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Brain</journal-id>
<journal-id journal-id-type="iso-abbrev">Brain</journal-id>
<journal-id journal-id-type="publisher-id">brainj</journal-id>
<journal-id journal-id-type="hwp">brain</journal-id>
<journal-title-group><journal-title>Brain</journal-title>
</journal-title-group>
<issn pub-type="ppub">0006-8950</issn>
<issn pub-type="epub">1460-2156</issn>
<publisher><publisher-name>Oxford University Press</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">26117366</article-id>
<article-id pub-id-type="pmc">4564023</article-id>
<article-id pub-id-type="doi">10.1093/brain/awv179</article-id>
<article-id pub-id-type="publisher-id">awv179</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Original Articles</subject>
</subj-group>
<subj-group subj-group-type="hwp-journal-coll"><subject>1040</subject>
</subj-group>
</article-categories>
<title-group><article-title>Glucocerebrosidase activity in Parkinson’s disease with and without <italic>GBA</italic>
mutations</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Alcalay</surname>
<given-names>Roy N.</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup>
</xref>
<xref ref-type="aff" rid="awv179-AFF2"><sup>2</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Levy</surname>
<given-names>Oren A.</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup>
</xref>
<xref ref-type="aff" rid="awv179-AFF2"><sup>2</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Waters</surname>
<given-names>Cheryl C.</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Fahn</surname>
<given-names>Stanley</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ford</surname>
<given-names>Blair</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kuo</surname>
<given-names>Sheng-Han</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mazzoni</surname>
<given-names>Pietro</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pauciulo</surname>
<given-names>Michael W.</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF3"><sup>3</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nichols</surname>
<given-names>William C.</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF3"><sup>3</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gan-Or</surname>
<given-names>Ziv</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF4"><sup>4</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rouleau</surname>
<given-names>Guy A.</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF4"><sup>4</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Chung</surname>
<given-names>Wendy K.</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF5"><sup>5</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wolf</surname>
<given-names>Pavlina</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF6"><sup>6</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Oliva</surname>
<given-names>Petra</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF6"><sup>6</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Keutzer</surname>
<given-names>Joan</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF6"><sup>6</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Marder</surname>
<given-names>Karen</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF1"><sup>1</sup>
</xref>
<xref ref-type="aff" rid="awv179-AFF2"><sup>2</sup>
</xref>
<xref ref-type="aff" rid="awv179-AFF7"><sup>7</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zhang</surname>
<given-names>Xiaokui</given-names>
</name>
<xref ref-type="aff" rid="awv179-AFF6"><sup>6</sup>
</xref>
</contrib>
<aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</aff>
<aff id="awv179-AFF2">2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</aff>
<aff id="awv179-AFF3">3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine, Cincinnati, OH, USA</aff>
<aff id="awv179-AFF4">4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada</aff>
<aff id="awv179-AFF5">5 Department of Pediatrics and Medicine, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</aff>
<aff id="awv179-AFF6">6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA</aff>
<aff id="awv179-AFF7">7 Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA</aff>
</contrib-group>
<author-notes><corresp id="awv179-COR1">Correspondence to: Roy N. Alcalay, 710 West 168th street, New York City, New York USA E-mail: <email>rna2104@columbia.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>9</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="epub"><day>27</day>
<month>6</month>
<year>2015</year>
</pub-date>
<volume>138</volume>
<issue>9</issue>
<fpage>2648</fpage>
<lpage>2658</lpage>
<history><date date-type="received"><day>28</day>
<month>1</month>
<year>2015</year>
</date>
<date date-type="rev-recd"><day>01</day>
<month>4</month>
<year>2015</year>
</date>
<date date-type="accepted"><day>27</day>
<month>4</month>
<year>2015</year>
</date>
</history>
<permissions><copyright-statement>© The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com</copyright-statement>
<copyright-year>2015</copyright-year>
</permissions>
<abstract abstract-type="precis"><p>Glucocerebrosidase (<italic>GBA</italic>
) mutations are common risk factors for Parkinson’s disease. Alcalay <italic>et al.</italic>
measure glucocerebrosidase enzymatic activity in dried blood spots from patients with Parkinson’s disease with and without <italic>GBA</italic>
mutations, and controls. Low glucocerebrosidase enzymatic activity is strongly associated with <italic>GBA</italic>
mutations, and modestly associated with idiopathic Parkinson’s disease.</p>
</abstract>
<abstract abstract-type="graphical"><p><fig id="fig1g" fig-type="featured" position="float"><caption><p>Glucocerebrosidase (<italic>GBA</italic>
) mutations are common risk factors for Parkinson’s disease. Alcalay <italic>et al.</italic>
measure glucocerebrosidase enzymatic activity in dried blood spots from patients with Parkinson’s disease with and without <italic>GBA</italic>
mutations, and controls. Low glucocerebrosidase enzymatic activity is strongly associated with <italic>GBA</italic>
mutations, and modestly associated with idiopathic Parkinson’s disease.</p>
</caption>
<graphic xlink:href="awv179fig1g"></graphic>
</fig>
</p>
</abstract>
<abstract><p>Glucocerebrosidase (<italic>GBA</italic>
) mutations have been associated with Parkinson’s disease in numerous studies. However, it is unknown whether the increased risk of Parkinson’s disease in <italic>GBA</italic>
carriers is due to a loss of glucocerebrosidase enzymatic activity. We measured glucocerebrosidase enzymatic activity in dried blood spots in patients with Parkinson's disease (<italic>n = </italic>
517) and controls (<italic>n = </italic>
252) with and without <italic>GBA</italic>
mutations. Participants were recruited from Columbia University, New York, and fully sequenced for <italic>GBA</italic>
mutations and genotyped for the <italic>LRRK2</italic>
G2019S mutation, the most common autosomal dominant mutation in the Ashkenazi Jewish population. Glucocerebrosidase enzymatic activity in dried blood spots was measured by a mass spectrometry-based assay and compared among participants categorized by <italic>GBA</italic>
mutation status and Parkinson’s disease diagnosis. Parkinson’s disease patients were more likely than controls to carry the <italic>LRRK2</italic>
G2019S mutation (<italic>n = </italic>
39, 7.5% versus <italic>n = </italic>
2, 0.8%, <italic>P < </italic>
0.001) and <italic>GBA</italic>
mutations or variants (seven homozygotes and compound heterozygotes and 81 heterozygotes, 17.0% versus 17 heterozygotes, 6.7%, <italic>P < </italic>
0.001). <italic>GBA</italic>
homozygotes/compound heterozygotes had lower enzymatic activity than <italic>GBA </italic>
heterozygotes (0.85 µmol/l/h versus 7.88 µmol/l/h, <italic>P < </italic>
0.001), and <italic>GBA</italic>
heterozygotes had lower enzymatic activity than <italic>GBA</italic>
and <italic>LRRK2 </italic>
non-carriers (7.88 µmol/l/h versus 11.93 µmol/l/h, <italic>P < </italic>
0.001). Glucocerebrosidase activity was reduced in heterozygotes compared to non-carriers when each mutation was compared independently (N370S, <italic>P < </italic>
0.001; L444P, <italic>P < </italic>
0.001; 84GG, <italic>P = </italic>
0.003; R496H, <italic>P = </italic>
0.018) and also reduced in <italic>GBA</italic>
variants associated with Parkinson’s risk but not with Gaucher disease (E326K, <italic>P = </italic>
0.009; T369M, <italic>P < </italic>
0.001). When all patients with Parkinson’s disease were considered, they had lower mean glucocerebrosidase enzymatic activity than controls (11.14 µmol/l/h versus 11.85 µmol/l/h, <italic>P = </italic>
0.011). Difference compared to controls persisted in patients with idiopathic Parkinson’s disease (after exclusion of all <italic>GBA</italic>
and <italic>LRRK2</italic>
carriers; 11.53 µmol/l/h, versus 12.11 µmol/l/h, <italic>P = </italic>
0.036) and after adjustment for age and gender (<italic>P = </italic>
0.012). Interestingly, <italic>LRRK2</italic>
G2019S carriers (<italic>n = </italic>
36), most of whom had Parkinson’s disease, had higher enzymatic activity than non-carriers (13.69 µmol/l/h versus 11.93 µmol/l/h, <italic>P = </italic>
0.002). In patients with idiopathic Parkinson’s, higher glucocerebrosidase enzymatic activity was associated with longer disease duration (<italic>P = </italic>
0.002) in adjusted models, suggesting a milder disease course. We conclude that lower glucocerebrosidase enzymatic activity is strongly associated with <italic>GBA</italic>
mutations, and modestly with idiopathic Parkinson’s disease. The association of lower glucocerebrosidase activity in both <italic>GBA</italic>
mutation carriers and Parkinson’s patients without <italic>GBA</italic>
mutations suggests that loss of glucocerebrosidase function contributes to the pathogenesis of Parkinson’s disease. High glucocerebrosidase enzymatic activity in <italic>LRRK2</italic>
G2019S carriers may reflect a distinct pathogenic mechanism. Taken together, these data suggest that glucocerebrosidase enzymatic activity could be a modifiable therapeutic target.</p>
</abstract>
<kwd-group kwd-group-type="keywords"><kwd>Parkinson’s disease</kwd>
<kwd>glucocerebrosidase</kwd>
<kwd>lysosome</kwd>
<kwd>genetics</kwd>
<kwd>LRRK2</kwd>
</kwd-group>
<counts><page-count count="11"></page-count>
</counts>
</article-meta>
</front>
</pmc>
</record>
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