VPS35 mutations in Parkinson disease.
Identifieur interne : 000B95 ( PubMed/Corpus ); précédent : 000B94; suivant : 000B96VPS35 mutations in Parkinson disease.
Auteurs : Carles Vilari O-Güell ; Christian Wider ; Owen A. Ross ; Justus C. Dachsel ; Jennifer M. Kachergus ; Sarah J. Lincoln ; Alexandra I. Soto-Ortolaza ; Stephanie A. Cobb ; Greggory J. Wilhoite ; Justin A. Bacon ; Bahareh Behrouz ; Heather L. Melrose ; Emna Hentati ; Andreas Puschmann ; Daniel M. Evans ; Elizabeth Conibear ; Wyeth W. Wasserman ; Jan O. Aasly ; Pierre R. Burkhard ; Ruth Djaldetti ; Joseph Ghika ; Faycal Hentati ; Anna Krygowska-Wajs ; Tim Lynch ; Eldad Melamed ; Alex Rajput ; Ali H. Rajput ; Alessandra Solida ; Ruey-Meei Wu ; Ryan J. Uitti ; Zbigniew K. Wszolek ; François Vingerhoets ; Matthew J. FarrerSource :
- American journal of human genetics [ 1537-6605 ] ; 2011.
English descriptors
- KwdEn :
- Adult, Age of Onset, Amino Acid Sequence, Biological Transport, Endosomes (genetics), Endosomes (metabolism), Female, Gene Expression Regulation, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Parkinson Disease (genetics), Pedigree, Vacuoles (metabolism), Vesicular Transport Proteins (genetics), Vesicular Transport Proteins (metabolism), trans-Golgi Network (metabolism).
- MESH :
- chemical , genetics : Vesicular Transport Proteins.
- genetics : Endosomes, Parkinson Disease.
- metabolism : Endosomes, Vacuoles, Vesicular Transport Proteins, trans-Golgi Network.
- Adult, Age of Onset, Amino Acid Sequence, Biological Transport, Female, Gene Expression Regulation, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Pedigree.
Abstract
The identification of genetic causes for Mendelian disorders has been based on the collection of multi-incident families, linkage analysis, and sequencing of genes in candidate intervals. This study describes the application of next-generation sequencing technologies to a Swiss kindred presenting with autosomal-dominant, late-onset Parkinson disease (PD). The family has tremor-predominant dopa-responsive parkinsonism with a mean onset of 50.6 ± 7.3 years. Exome analysis suggests that an aspartic-acid-to-asparagine mutation within vacuolar protein sorting 35 (VPS35 c.1858G>A; p.Asp620Asn) is the genetic determinant of disease. VPS35 is a central component of the retromer cargo-recognition complex, is critical for endosome-trans-golgi trafficking and membrane-protein recycling, and is evolutionarily highly conserved. VPS35 c.1858G>A was found in all affected members of the Swiss kindred and in three more families and one patient with sporadic PD, but it was not observed in 3,309 controls. Further sequencing of familial affected probands revealed only one other missense variant, VPS35 c.946C>T; (p.Pro316Ser), in a pedigree with one unaffected and two affected carriers, and thus the pathogenicity of this mutation remains uncertain. Retromer-mediated sorting and transport is best characterized for acid hydrolase receptors. However, the complex has many types of cargo and is involved in a diverse array of biologic pathways from developmental Wnt signaling to lysosome biogenesis. Our study implicates disruption of VPS35 and retromer-mediated trans-membrane protein sorting, rescue, and recycling in the neurodegenerative process leading to PD.
DOI: 10.1016/j.ajhg.2011.06.001
PubMed: 21763482
Links to Exploration step
pubmed:21763482Le document en format XML
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Farrer</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2011">2011</date><idno type="RBID">pubmed:21763482</idno><idno type="pmid">21763482</idno><idno type="doi">10.1016/j.ajhg.2011.06.001</idno><idno type="wicri:Area/PubMed/Corpus">000B95</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000B95</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">VPS35 mutations in Parkinson disease.</title><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><affiliation><nlm:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, Canada. carles@can.ubc.ca</nlm:affiliation></affiliation></author><author><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name></author><author><name sortKey="Dachsel, Justus C" sort="Dachsel, Justus C" uniqKey="Dachsel J" first="Justus C" last="Dachsel">Justus C. Dachsel</name></author><author><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M" last="Kachergus">Jennifer M. Kachergus</name></author><author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J" last="Lincoln">Sarah J. Lincoln</name></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I" last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name></author><author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A" last="Cobb">Stephanie A. Cobb</name></author><author><name sortKey="Wilhoite, Greggory J" sort="Wilhoite, Greggory J" uniqKey="Wilhoite G" first="Greggory J" last="Wilhoite">Greggory J. Wilhoite</name></author><author><name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A" last="Bacon">Justin A. Bacon</name></author><author><name sortKey="Behrouz, Bahareh" sort="Behrouz, Bahareh" uniqKey="Behrouz B" first="Bahareh" last="Behrouz">Bahareh Behrouz</name></author><author><name sortKey="Melrose, Heather L" sort="Melrose, Heather L" uniqKey="Melrose H" first="Heather L" last="Melrose">Heather L. Melrose</name></author><author><name sortKey="Hentati, Emna" sort="Hentati, Emna" uniqKey="Hentati E" first="Emna" last="Hentati">Emna Hentati</name></author><author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name></author><author><name sortKey="Evans, Daniel M" sort="Evans, Daniel M" uniqKey="Evans D" first="Daniel M" last="Evans">Daniel M. Evans</name></author><author><name sortKey="Conibear, Elizabeth" sort="Conibear, Elizabeth" uniqKey="Conibear E" first="Elizabeth" last="Conibear">Elizabeth Conibear</name></author><author><name sortKey="Wasserman, Wyeth W" sort="Wasserman, Wyeth W" uniqKey="Wasserman W" first="Wyeth W" last="Wasserman">Wyeth W. Wasserman</name></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name></author><author><name sortKey="Burkhard, Pierre R" sort="Burkhard, Pierre R" uniqKey="Burkhard P" first="Pierre R" last="Burkhard">Pierre R. Burkhard</name></author><author><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name></author><author><name sortKey="Ghika, Joseph" sort="Ghika, Joseph" uniqKey="Ghika J" first="Joseph" last="Ghika">Joseph Ghika</name></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name></author><author><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name></author><author><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name></author><author><name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name></author><author><name sortKey="Solida, Alessandra" sort="Solida, Alessandra" uniqKey="Solida A" first="Alessandra" last="Solida">Alessandra Solida</name></author><author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J" last="Uitti">Ryan J. Uitti</name></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K" last="Wszolek">Zbigniew K. Wszolek</name></author><author><name sortKey="Vingerhoets, Francois" sort="Vingerhoets, Francois" uniqKey="Vingerhoets F" first="François" last="Vingerhoets">François Vingerhoets</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name></author></analytic><series><title level="j">American journal of human genetics</title><idno type="eISSN">1537-6605</idno><imprint><date when="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Amino Acid Sequence</term><term>Biological Transport</term><term>Endosomes (genetics)</term><term>Endosomes (metabolism)</term><term>Female</term><term>Gene Expression Regulation</term><term>Genetic Variation</term><term>Genome, Human</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Parkinson Disease (genetics)</term><term>Pedigree</term><term>Vacuoles (metabolism)</term><term>Vesicular Transport Proteins (genetics)</term><term>Vesicular Transport Proteins (metabolism)</term><term>trans-Golgi Network (metabolism)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vesicular Transport Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Endosomes</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Endosomes</term><term>Vacuoles</term><term>Vesicular Transport Proteins</term><term>trans-Golgi Network</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Amino Acid Sequence</term><term>Biological Transport</term><term>Female</term><term>Gene Expression Regulation</term><term>Genetic Variation</term><term>Genome, Human</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The identification of genetic causes for Mendelian disorders has been based on the collection of multi-incident families, linkage analysis, and sequencing of genes in candidate intervals. This study describes the application of next-generation sequencing technologies to a Swiss kindred presenting with autosomal-dominant, late-onset Parkinson disease (PD). The family has tremor-predominant dopa-responsive parkinsonism with a mean onset of 50.6 ± 7.3 years. Exome analysis suggests that an aspartic-acid-to-asparagine mutation within vacuolar protein sorting 35 (VPS35 c.1858G>A; p.Asp620Asn) is the genetic determinant of disease. VPS35 is a central component of the retromer cargo-recognition complex, is critical for endosome-trans-golgi trafficking and membrane-protein recycling, and is evolutionarily highly conserved. VPS35 c.1858G>A was found in all affected members of the Swiss kindred and in three more families and one patient with sporadic PD, but it was not observed in 3,309 controls. Further sequencing of familial affected probands revealed only one other missense variant, VPS35 c.946C>T; (p.Pro316Ser), in a pedigree with one unaffected and two affected carriers, and thus the pathogenicity of this mutation remains uncertain. Retromer-mediated sorting and transport is best characterized for acid hydrolase receptors. However, the complex has many types of cargo and is involved in a diverse array of biologic pathways from developmental Wnt signaling to lysosome biogenesis. Our study implicates disruption of VPS35 and retromer-mediated trans-membrane protein sorting, rescue, and recycling in the neurodegenerative process leading to PD.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">21763482</PMID><DateCreated><Year>2011</Year><Month>07</Month><Day>18</Day></DateCreated><DateCompleted><Year>2011</Year><Month>09</Month><Day>19</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>22</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1537-6605</ISSN><JournalIssue CitedMedium="Internet"><Volume>89</Volume><Issue>1</Issue><PubDate><Year>2011</Year><Month>Jul</Month><Day>15</Day></PubDate></JournalIssue><Title>American journal of human genetics</Title><ISOAbbreviation>Am. J. Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>VPS35 mutations in Parkinson disease.</ArticleTitle><Pagination><MedlinePgn>162-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ajhg.2011.06.001</ELocationID><Abstract><AbstractText>The identification of genetic causes for Mendelian disorders has been based on the collection of multi-incident families, linkage analysis, and sequencing of genes in candidate intervals. This study describes the application of next-generation sequencing technologies to a Swiss kindred presenting with autosomal-dominant, late-onset Parkinson disease (PD). The family has tremor-predominant dopa-responsive parkinsonism with a mean onset of 50.6 ± 7.3 years. Exome analysis suggests that an aspartic-acid-to-asparagine mutation within vacuolar protein sorting 35 (VPS35 c.1858G>A; p.Asp620Asn) is the genetic determinant of disease. VPS35 is a central component of the retromer cargo-recognition complex, is critical for endosome-trans-golgi trafficking and membrane-protein recycling, and is evolutionarily highly conserved. VPS35 c.1858G>A was found in all affected members of the Swiss kindred and in three more families and one patient with sporadic PD, but it was not observed in 3,309 controls. Further sequencing of familial affected probands revealed only one other missense variant, VPS35 c.946C>T; (p.Pro316Ser), in a pedigree with one unaffected and two affected carriers, and thus the pathogenicity of this mutation remains uncertain. Retromer-mediated sorting and transport is best characterized for acid hydrolase receptors. However, the complex has many types of cargo and is involved in a diverse array of biologic pathways from developmental Wnt signaling to lysosome biogenesis. Our study implicates disruption of VPS35 and retromer-mediated trans-membrane protein sorting, rescue, and recycling in the neurodegenerative process leading to PD.</AbstractText><CopyrightInformation>Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Vilariño-Güell</LastName><ForeName>Carles</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, Canada. carles@can.ubc.ca</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wider</LastName><ForeName>Christian</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Ross</LastName><ForeName>Owen A</ForeName><Initials>OA</Initials></Author><Author ValidYN="Y"><LastName>Dachsel</LastName><ForeName>Justus C</ForeName><Initials>JC</Initials></Author><Author ValidYN="Y"><LastName>Kachergus</LastName><ForeName>Jennifer M</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Lincoln</LastName><ForeName>Sarah J</ForeName><Initials>SJ</Initials></Author><Author ValidYN="Y"><LastName>Soto-Ortolaza</LastName><ForeName>Alexandra I</ForeName><Initials>AI</Initials></Author><Author ValidYN="Y"><LastName>Cobb</LastName><ForeName>Stephanie A</ForeName><Initials>SA</Initials></Author><Author ValidYN="Y"><LastName>Wilhoite</LastName><ForeName>Greggory J</ForeName><Initials>GJ</Initials></Author><Author ValidYN="Y"><LastName>Bacon</LastName><ForeName>Justin A</ForeName><Initials>JA</Initials></Author><Author ValidYN="Y"><LastName>Behrouz</LastName><ForeName>Bahareh</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Melrose</LastName><ForeName>Heather L</ForeName><Initials>HL</Initials></Author><Author ValidYN="Y"><LastName>Hentati</LastName><ForeName>Emna</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Puschmann</LastName><ForeName>Andreas</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Evans</LastName><ForeName>Daniel M</ForeName><Initials>DM</Initials></Author><Author ValidYN="Y"><LastName>Conibear</LastName><ForeName>Elizabeth</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Wasserman</LastName><ForeName>Wyeth W</ForeName><Initials>WW</Initials></Author><Author ValidYN="Y"><LastName>Aasly</LastName><ForeName>Jan O</ForeName><Initials>JO</Initials></Author><Author ValidYN="Y"><LastName>Burkhard</LastName><ForeName>Pierre R</ForeName><Initials>PR</Initials></Author><Author ValidYN="Y"><LastName>Djaldetti</LastName><ForeName>Ruth</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Ghika</LastName><ForeName>Joseph</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Hentati</LastName><ForeName>Faycal</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Krygowska-Wajs</LastName><ForeName>Anna</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Lynch</LastName><ForeName>Tim</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Melamed</LastName><ForeName>Eldad</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Rajput</LastName><ForeName>Alex</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Rajput</LastName><ForeName>Ali H</ForeName><Initials>AH</Initials></Author><Author ValidYN="Y"><LastName>Solida</LastName><ForeName>Alessandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Wu</LastName><ForeName>Ruey-Meei</ForeName><Initials>RM</Initials></Author><Author ValidYN="Y"><LastName>Uitti</LastName><ForeName>Ryan J</ForeName><Initials>RJ</Initials></Author><Author ValidYN="Y"><LastName>Wszolek</LastName><ForeName>Zbigniew K</ForeName><Initials>ZK</Initials></Author><Author ValidYN="Y"><LastName>Vingerhoets</LastName><ForeName>François</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>Matthew J</ForeName><Initials>MJ</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>P50 NS040256</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>G0600705</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0800582</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>P50NS072187</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P50NS040256</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P50 NS072187</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Hum Genet</MedlineTA><NlmUniqueID>0370475</NlmUniqueID><ISSNLinking>0002-9297</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C419573">VPS35 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D033921">Vesicular Transport Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Parkinsonism Relat Disord. 2010 Dec;16(10):650-5</RefSource><PMID Version="1">20850369</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Science. 2010 Sep 24;329(5999):1663-7</RefSource><PMID 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