Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N.
Identifieur interne : 000397 ( PubMed/Checkpoint ); précédent : 000396; suivant : 000398Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N.
Auteurs : L N Munsie [Canada] ; A J Milnerwood [Canada] ; P. Seibler [Allemagne] ; D A Beccano-Kelly [Canada] ; I. Tatarnikov [Canada] ; J. Khinda [Canada] ; M. Volta [Canada] ; C. Kadgien [Canada] ; L P Cao [Canada] ; L. Tapia [Canada] ; C. Klein [Allemagne] ; M J Farrer [Canada]Source :
- Human molecular genetics [ 1460-2083 ] ; 2015.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Vesicular Transport Proteins.
- chemical , metabolism : Receptors, Glutamate.
- genetics : Parkinson Disease.
- metabolism : Dendritic Spines, Neurons, Synapses.
- Animals, Humans, Mice, Mutation, Missense, Protein Transport.
Abstract
Vacuolar protein sorting 35 (VPS35) is a core component of the retromer complex, crucial to endosomal protein sorting and intracellular trafficking. We recently linked a mutation in VPS35 (p.D620N) to familial parkinsonism. Here, we characterize human VPS35 and retromer function in mature murine neuronal cultures and investigate neuron-specific consequences of the p.D620N mutation. We find VPS35 localizes to dendritic spines and is involved in the trafficking of excitatory AMPA-type glutamate receptors (AMPARs). Fundamental neuronal processes, including excitatory synaptic transmission, AMPAR surface expression and synaptic recycling are altered by VPS35 overexpression. VPS35 p.D620N acts as a loss-of-function mutation with respect to VPS35 activity regulating synaptic transmission and AMPAR recycling in mouse cortical neurons and dopamine neuron-like cells produced from induced pluripotent stem cells of human p.D620N carriers. Such perturbations to synaptic function likely produce chronic pathophysiological stress upon neuronal circuits that may contribute to neurodegeneration in this, and other, forms of parkinsonism.
DOI: 10.1093/hmg/ddu582
PubMed: 25416282
Affiliations:
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Seibler</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurogenetics, Department of Neurology, University of Lübeck, Lübeck, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Division of Neurogenetics, Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Beccano Kelly, D A" sort="Beccano Kelly, D A" uniqKey="Beccano Kelly D" first="D A" last="Beccano-Kelly">D A Beccano-Kelly</name><affiliation wicri:level="1"><nlm:affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Tatarnikov, I" sort="Tatarnikov, I" uniqKey="Tatarnikov I" first="I" last="Tatarnikov">I. Tatarnikov</name><affiliation wicri:level="1"><nlm:affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Khinda, J" sort="Khinda, J" uniqKey="Khinda J" first="J" last="Khinda">J. Khinda</name><affiliation wicri:level="1"><nlm:affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Volta, M" sort="Volta, M" uniqKey="Volta M" first="M" last="Volta">M. Volta</name><affiliation wicri:level="1"><nlm:affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Kadgien, C" sort="Kadgien, C" uniqKey="Kadgien C" first="C" last="Kadgien">C. Kadgien</name><affiliation wicri:level="1"><nlm:affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Cao, L P" sort="Cao, L P" uniqKey="Cao L" first="L P" last="Cao">L P Cao</name><affiliation wicri:level="1"><nlm:affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Tapia, L" sort="Tapia, L" uniqKey="Tapia L" first="L" last="Tapia">L. Tapia</name><affiliation wicri:level="1"><nlm:affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C" last="Klein">C. Klein</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurogenetics, Department of Neurology, University of Lübeck, Lübeck, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Division of Neurogenetics, Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M J" last="Farrer">M J Farrer</name><affiliation wicri:level="1"><nlm:affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author></analytic><series><title level="j">Human molecular genetics</title><idno type="eISSN">1460-2083</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term><term>Dendritic Spines (metabolism)</term><term>Humans</term><term>Mice</term><term>Mutation, Missense</term><term>Neurons (metabolism)</term><term>Parkinson Disease (genetics)</term><term>Protein Transport</term><term>Receptors, Glutamate (metabolism)</term><term>Synapses (metabolism)</term><term>Vesicular Transport Proteins (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vesicular Transport Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Receptors, Glutamate</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Dendritic Spines</term><term>Neurons</term><term>Synapses</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Humans</term><term>Mice</term><term>Mutation, Missense</term><term>Protein Transport</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Vacuolar protein sorting 35 (VPS35) is a core component of the retromer complex, crucial to endosomal protein sorting and intracellular trafficking. We recently linked a mutation in VPS35 (p.D620N) to familial parkinsonism. Here, we characterize human VPS35 and retromer function in mature murine neuronal cultures and investigate neuron-specific consequences of the p.D620N mutation. We find VPS35 localizes to dendritic spines and is involved in the trafficking of excitatory AMPA-type glutamate receptors (AMPARs). Fundamental neuronal processes, including excitatory synaptic transmission, AMPAR surface expression and synaptic recycling are altered by VPS35 overexpression. VPS35 p.D620N acts as a loss-of-function mutation with respect to VPS35 activity regulating synaptic transmission and AMPAR recycling in mouse cortical neurons and dopamine neuron-like cells produced from induced pluripotent stem cells of human p.D620N carriers. Such perturbations to synaptic function likely produce chronic pathophysiological stress upon neuronal circuits that may contribute to neurodegeneration in this, and other, forms of parkinsonism.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25416282</PMID><DateCreated><Year>2015</Year><Month>02</Month><Day>21</Day></DateCreated><DateCompleted><Year>2015</Year><Month>11</Month><Day>23</Day></DateCompleted><DateRevised><Year>2015</Year><Month>02</Month><Day>21</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1460-2083</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>6</Issue><PubDate><Year>2015</Year><Month>Mar</Month><Day>15</Day></PubDate></JournalIssue><Title>Human molecular genetics</Title><ISOAbbreviation>Hum. Mol. Genet.</ISOAbbreviation></Journal><ArticleTitle>Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N.</ArticleTitle><Pagination><MedlinePgn>1691-703</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1093/hmg/ddu582</ELocationID><Abstract><AbstractText>Vacuolar protein sorting 35 (VPS35) is a core component of the retromer complex, crucial to endosomal protein sorting and intracellular trafficking. We recently linked a mutation in VPS35 (p.D620N) to familial parkinsonism. Here, we characterize human VPS35 and retromer function in mature murine neuronal cultures and investigate neuron-specific consequences of the p.D620N mutation. We find VPS35 localizes to dendritic spines and is involved in the trafficking of excitatory AMPA-type glutamate receptors (AMPARs). Fundamental neuronal processes, including excitatory synaptic transmission, AMPAR surface expression and synaptic recycling are altered by VPS35 overexpression. VPS35 p.D620N acts as a loss-of-function mutation with respect to VPS35 activity regulating synaptic transmission and AMPAR recycling in mouse cortical neurons and dopamine neuron-like cells produced from induced pluripotent stem cells of human p.D620N carriers. Such perturbations to synaptic function likely produce chronic pathophysiological stress upon neuronal circuits that may contribute to neurodegeneration in this, and other, forms of parkinsonism.</AbstractText><CopyrightInformation>© The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Munsie</LastName><ForeName>L N</ForeName><Initials>LN</Initials><AffiliationInfo><Affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Milnerwood</LastName><ForeName>A J</ForeName><Initials>AJ</Initials><AffiliationInfo><Affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada, Division of Neurology, Department of Medicine, University of British Columbia, Vancouver, BC, Canada V6T 2B5 amilnerwood@can.ubc.ca amilnerwood@gmail.com.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Seibler</LastName><ForeName>P</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Division of Neurogenetics, Department of Neurology, University of Lübeck, Lübeck, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Beccano-Kelly</LastName><ForeName>D A</ForeName><Initials>DA</Initials><AffiliationInfo><Affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tatarnikov</LastName><ForeName>I</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Khinda</LastName><ForeName>J</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Volta</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kadgien</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cao</LastName><ForeName>L P</ForeName><Initials>LP</Initials><AffiliationInfo><Affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tapia</LastName><ForeName>L</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Klein</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Division of Neurogenetics, Department of Neurology, University of Lübeck, Lübeck, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>M J</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>Department Medical Genetics, Centre for Applied Neurogenetics, Djavad Mowafagian Centre for Brain Health, Vancouver, Canada.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>MOP 119347</GrantID><Agency>Canadian Institutes of Health Research</Agency><Country>Canada</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>2014</Year><Month>11</Month><Day>21</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Hum Mol Genet</MedlineTA><NlmUniqueID>9208958</NlmUniqueID><ISSNLinking>0964-6906</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017470">Receptors, Glutamate</NameOfSubstance></Chemical><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><MeshHeadingList><MeshHeading><DescriptorName UI="D000818" MajorTopicYN="N">Animals</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D049229" MajorTopicYN="N">Dendritic Spines</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051379" MajorTopicYN="N">Mice</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="Y">Mutation, Missense</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009474" MajorTopicYN="N">Neurons</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D021381" MajorTopicYN="N">Protein Transport</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017470" MajorTopicYN="N">Receptors, Glutamate</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013569" MajorTopicYN="N">Synapses</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D033921" MajorTopicYN="N">Vesicular Transport Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>11</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>11</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>12</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25416282</ArticleId><ArticleId IdType="pii">ddu582</ArticleId><ArticleId IdType="doi">10.1093/hmg/ddu582</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li><li>Canada</li></country></list><tree><country name="Canada"><noRegion><name sortKey="Munsie, L N" sort="Munsie, L N" uniqKey="Munsie L" first="L N" last="Munsie">L N Munsie</name></noRegion><name sortKey="Beccano Kelly, D A" sort="Beccano Kelly, D A" uniqKey="Beccano Kelly D" first="D A" last="Beccano-Kelly">D A Beccano-Kelly</name><name sortKey="Cao, L P" sort="Cao, L P" uniqKey="Cao L" first="L P" last="Cao">L P Cao</name><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M J" last="Farrer">M J Farrer</name><name sortKey="Kadgien, C" sort="Kadgien, C" uniqKey="Kadgien C" first="C" last="Kadgien">C. Kadgien</name><name sortKey="Khinda, J" sort="Khinda, J" uniqKey="Khinda J" first="J" last="Khinda">J. Khinda</name><name sortKey="Milnerwood, A J" sort="Milnerwood, A J" uniqKey="Milnerwood A" first="A J" last="Milnerwood">A J Milnerwood</name><name sortKey="Tapia, L" sort="Tapia, L" uniqKey="Tapia L" first="L" last="Tapia">L. Tapia</name><name sortKey="Tatarnikov, I" sort="Tatarnikov, I" uniqKey="Tatarnikov I" first="I" last="Tatarnikov">I. Tatarnikov</name><name sortKey="Volta, M" sort="Volta, M" uniqKey="Volta M" first="M" last="Volta">M. Volta</name></country><country name="Allemagne"><noRegion><name sortKey="Seibler, P" sort="Seibler, P" uniqKey="Seibler P" first="P" last="Seibler">P. Seibler</name></noRegion><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C" last="Klein">C. Klein</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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