The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
Identifieur interne : 000B42 ( PubMed/Curation ); précédent : 000B41; suivant : 000B43The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
Auteurs : Raquel Duran [Royaume-Uni] ; Niccolo E. Mencacci ; Aikaterini V. Angeli ; Maryam Shoai ; Emma Deas ; Henry Houlden ; Atul Mehta ; Derralynn Hughes ; Timothy M. Cox ; Patrick Deegan ; Anthony H. Schapira ; Andrew J. Lees ; Patricia Limousin ; Paul R. Jarman ; Kailash P. Bhatia ; Nicholas W. Wood ; John Hardy ; Tom FoltynieSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Adult, Age of Onset, DNA (genetics), Databases, Genetic, European Continental Ancestry Group, Exons (genetics), Female, Gaucher Disease (epidemiology), Gaucher Disease (genetics), Gene Frequency, Glucosylceramidase (genetics), Great Britain (epidemiology), Humans, Leukocytes (enzymology), Lewy Body Disease (genetics), Lewy Body Disease (pathology), Male, Middle Aged, Molecular Sequence Data, Mutation (genetics), Open Reading Frames (genetics), Parkinson Disease (epidemiology), Parkinson Disease (genetics), Protein-Serine-Threonine Kinases (genetics), Sequence Analysis, DNA, Ubiquitin-Protein Ligases (genetics), Young Adult.
- MESH :
- chemical , genetics : DNA, Glucosylceramidase, Protein-Serine-Threonine Kinases, Ubiquitin-Protein Ligases.
- geographic , epidemiology : Great Britain.
- enzymology : Leukocytes.
- epidemiology : Gaucher Disease, Parkinson Disease.
- genetics : Exons, Gaucher Disease, Lewy Body Disease, Mutation, Open Reading Frames, Parkinson Disease.
- pathology : Lewy Body Disease.
- Adult, Age of Onset, Databases, Genetic, European Continental Ancestry Group, Female, Gene Frequency, Humans, Male, Middle Aged, Molecular Sequence Data, Sequence Analysis, DNA, Young Adult.
Abstract
Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher's disease (GD), are the strongest known risk factor for Parkinson's disease (PD). Our aim was to assess the contribution of GBA1 mutations in a series of early-onset PD.
DOI: 10.1002/mds.25248
PubMed: 23225227
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Mencacci</name></author><author><name sortKey="Angeli, Aikaterini V" sort="Angeli, Aikaterini V" uniqKey="Angeli A" first="Aikaterini V" last="Angeli">Aikaterini V. Angeli</name></author><author><name sortKey="Shoai, Maryam" sort="Shoai, Maryam" uniqKey="Shoai M" first="Maryam" last="Shoai">Maryam Shoai</name></author><author><name sortKey="Deas, Emma" sort="Deas, Emma" uniqKey="Deas E" first="Emma" last="Deas">Emma Deas</name></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name></author><author><name sortKey="Mehta, Atul" sort="Mehta, Atul" uniqKey="Mehta A" first="Atul" last="Mehta">Atul Mehta</name></author><author><name sortKey="Hughes, Derralynn" sort="Hughes, Derralynn" uniqKey="Hughes D" first="Derralynn" last="Hughes">Derralynn Hughes</name></author><author><name sortKey="Cox, Timothy M" sort="Cox, Timothy M" uniqKey="Cox T" first="Timothy M" last="Cox">Timothy M. Cox</name></author><author><name sortKey="Deegan, Patrick" sort="Deegan, Patrick" uniqKey="Deegan P" first="Patrick" last="Deegan">Patrick Deegan</name></author><author><name sortKey="Schapira, Anthony H" sort="Schapira, Anthony H" uniqKey="Schapira A" first="Anthony H" last="Schapira">Anthony H. Schapira</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author><author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name></author><author><name sortKey="Jarman, Paul R" sort="Jarman, Paul R" uniqKey="Jarman P" first="Paul R" last="Jarman">Paul R. Jarman</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Foltynie, Tom" sort="Foltynie, Tom" uniqKey="Foltynie T" first="Tom" last="Foltynie">Tom Foltynie</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="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>DNA (genetics)</term><term>Databases, Genetic</term><term>European Continental Ancestry Group</term><term>Exons (genetics)</term><term>Female</term><term>Gaucher Disease (epidemiology)</term><term>Gaucher Disease (genetics)</term><term>Gene Frequency</term><term>Glucosylceramidase (genetics)</term><term>Great Britain (epidemiology)</term><term>Humans</term><term>Leukocytes (enzymology)</term><term>Lewy Body Disease (genetics)</term><term>Lewy Body Disease (pathology)</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Mutation (genetics)</term><term>Open Reading Frames (genetics)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Sequence Analysis, DNA</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term><term>Glucosylceramidase</term><term>Protein-Serine-Threonine Kinases</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Great Britain</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Leukocytes</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Gaucher Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Gaucher Disease</term><term>Lewy Body Disease</term><term>Mutation</term><term>Open Reading Frames</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lewy Body Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Databases, Genetic</term><term>European Continental Ancestry Group</term><term>Female</term><term>Gene Frequency</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Sequence Analysis, DNA</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher's disease (GD), are the strongest known risk factor for Parkinson's disease (PD). Our aim was to assess the contribution of GBA1 mutations in a series of early-onset PD.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23225227</PMID><DateCreated><Year>2013</Year><Month>02</Month><Day>25</Day></DateCreated><DateCompleted><Year>2013</Year><Month>08</Month><Day>06</Day></DateCompleted><DateRevised><Year>2015</Year><Month>02</Month><Day>24</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>28</Volume><Issue>2</Issue><PubDate><Year>2013</Year><Month>Feb</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.</ArticleTitle><Pagination><MedlinePgn>232-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25248</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher's disease (GD), are the strongest known risk factor for Parkinson's disease (PD). Our aim was to assess the contribution of GBA1 mutations in a series of early-onset PD.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">One hundred and eighty-five PD patients (with an onset age of ≤50) and 283 age-matched controls were screened for GBA1 mutations by Sanger sequencing.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">We show that the frequency of GBA1 mutations is much higher in this patient series than in typical late-onset patient cohorts. Furthermore, our results reveal that the most prevalent PD-associated GBA1 mutation is E326K, a variant that does not, when homozygous, cause GD.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Our results confirm recent reports that the mutation, E326K, predisposes to PD and suggest that, in addition to reduced GBA1 activity, other molecular mechanisms may contribute to the development of the disease.</AbstractText><CopyrightInformation>Copyright © 2012 Movement Disorders Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Duran</LastName><ForeName>Raquel</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mencacci</LastName><ForeName>Niccolo E</ForeName><Initials>NE</Initials></Author><Author ValidYN="Y"><LastName>Angeli</LastName><ForeName>Aikaterini V</ForeName><Initials>AV</Initials></Author><Author ValidYN="Y"><LastName>Shoai</LastName><ForeName>Maryam</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Deas</LastName><ForeName>Emma</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Houlden</LastName><ForeName>Henry</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Mehta</LastName><ForeName>Atul</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Hughes</LastName><ForeName>Derralynn</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Cox</LastName><ForeName>Timothy M</ForeName><Initials>TM</Initials></Author><Author ValidYN="Y"><LastName>Deegan</LastName><ForeName>Patrick</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Schapira</LastName><ForeName>Anthony H</ForeName><Initials>AH</Initials></Author><Author ValidYN="Y"><LastName>Lees</LastName><ForeName>Andrew J</ForeName><Initials>AJ</Initials></Author><Author ValidYN="Y"><LastName>Limousin</LastName><ForeName>Patricia</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Jarman</LastName><ForeName>Paul R</ForeName><Initials>PR</Initials></Author><Author ValidYN="Y"><LastName>Bhatia</LastName><ForeName>Kailash P</ForeName><Initials>KP</Initials></Author><Author ValidYN="Y"><LastName>Wood</LastName><ForeName>Nicholas W</ForeName><Initials>NW</Initials></Author><Author ValidYN="Y"><LastName>Hardy</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Foltynie</LastName><ForeName>Tom</ForeName><Initials>T</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>089698</GrantID><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G-1104</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0701075</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0802760</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>J-0804</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>K-0901</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>MC_G1000735</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>MR/J009660/1</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>WT089698</GrantID><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant><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>2012</Year><Month>12</Month><Day>05</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>9007-49-2</RegistryNumber><NameOfSubstance UI="D004247">DNA</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="C495280">LRRK2 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.2.1.45</RegistryNumber><NameOfSubstance UI="D005962">Glucosylceramidase</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 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