A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism
Identifieur interne : 000801 ( Pmc/Curation ); précédent : 000800; suivant : 000802A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism
Auteurs : Simon Edvardson [Israël] ; Yuval Cinnamon [Israël] ; Asaf Ta-Shma [Israël] ; Avraham Shaag [Israël] ; Yang-In Yim [États-Unis] ; Shamir Zenvirt [Israël] ; Chaim Jalas [États-Unis] ; Suzanne Lesage [France] ; Alexis Brice [France] ; Albert Taraboulos [Israël] ; Klaus H. Kaestner [États-Unis] ; Lois E. Greene [États-Unis] ; Orly Elpeleg [Israël]Source :
- PLoS ONE [ 1932-6203 ] ; 2012.
Abstract
Parkinson disease is caused by neuronal loss in the substantia nigra which manifests by abnormality of movement, muscle tone, and postural stability. Several genes have been implicated in the pathogenesis of Parkinson disease, but the underlying molecular basis is still unknown for ∼70% of the patients. Using homozygosity mapping and whole exome sequencing we identified a deleterious mutation in
Url:
DOI: 10.1371/journal.pone.0036458
PubMed: 22563501
PubMed Central: 3341348
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Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem</wicri:regionArea></affiliation></author><author><name sortKey="Ta Shma, Asaf" sort="Ta Shma, Asaf" uniqKey="Ta Shma A" first="Asaf" last="Ta-Shma">Asaf Ta-Shma</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem</wicri:regionArea></affiliation></author><author><name sortKey="Shaag, Avraham" sort="Shaag, Avraham" uniqKey="Shaag A" first="Avraham" last="Shaag">Avraham 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Disorders, Brooklyn, New York</wicri:regionArea></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>CRICM, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitié-Salpêtrière, Paris, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>CRICM, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitié-Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>CRICM, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitié-Salpêtrière, Paris, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>CRICM, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitié-Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Taraboulos, Albert" sort="Taraboulos, Albert" uniqKey="Taraboulos A" first="Albert" last="Taraboulos">Albert Taraboulos</name><affiliation wicri:level="1"><nlm:aff id="aff5"><addr-line>IMRIC, The Hebrew University-Hadassah Medical School, Jerusalem, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>IMRIC, The Hebrew University-Hadassah Medical School, Jerusalem</wicri:regionArea></affiliation></author><author><name sortKey="Kaestner, Klaus H" sort="Kaestner, Klaus H" uniqKey="Kaestner K" first="Klaus H." last="Kaestner">Klaus H. Kaestner</name><affiliation wicri:level="1"><nlm:aff id="aff6"><addr-line>Department of Genetics, Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics, Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania</wicri:regionArea></affiliation></author><author><name sortKey="Greene, Lois E" sort="Greene, Lois E" uniqKey="Greene L" first="Lois E." last="Greene">Lois E. Greene</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Laboratory of Cell Biology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Cell Biology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Elpeleg, Orly" sort="Elpeleg, Orly" uniqKey="Elpeleg O" first="Orly" last="Elpeleg">Orly Elpeleg</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22563501</idno><idno type="pmc">3341348</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341348</idno><idno type="RBID">PMC:3341348</idno><idno type="doi">10.1371/journal.pone.0036458</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">000804</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000804</idno><idno type="wicri:Area/Pmc/Curation">000801</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000801</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A Deleterious Mutation in <italic>DNAJC6</italic> Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism</title><author><name sortKey="Edvardson, Simon" sort="Edvardson, Simon" uniqKey="Edvardson S" first="Simon" last="Edvardson">Simon Edvardson</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem</wicri:regionArea></affiliation></author><author><name sortKey="Cinnamon, Yuval" sort="Cinnamon, Yuval" uniqKey="Cinnamon Y" first="Yuval" last="Cinnamon">Yuval Cinnamon</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem</wicri:regionArea></affiliation></author><author><name sortKey="Ta Shma, Asaf" sort="Ta Shma, Asaf" uniqKey="Ta Shma A" first="Asaf" last="Ta-Shma">Asaf Ta-Shma</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem</wicri:regionArea></affiliation></author><author><name sortKey="Shaag, Avraham" sort="Shaag, Avraham" uniqKey="Shaag A" first="Avraham" last="Shaag">Avraham Shaag</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem</wicri:regionArea></affiliation></author><author><name sortKey="Yim, Yang In" sort="Yim, Yang In" uniqKey="Yim Y" first="Yang-In" last="Yim">Yang-In Yim</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Laboratory of Cell Biology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Cell Biology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Zenvirt, Shamir" sort="Zenvirt, Shamir" uniqKey="Zenvirt S" first="Shamir" last="Zenvirt">Shamir Zenvirt</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem</wicri:regionArea></affiliation></author><author><name sortKey="Jalas, Chaim" sort="Jalas, Chaim" uniqKey="Jalas C" first="Chaim" last="Jalas">Chaim Jalas</name><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, New York, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, New York</wicri:regionArea></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>CRICM, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitié-Salpêtrière, Paris, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>CRICM, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitié-Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>CRICM, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitié-Salpêtrière, Paris, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>CRICM, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitié-Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Taraboulos, Albert" sort="Taraboulos, Albert" uniqKey="Taraboulos A" first="Albert" last="Taraboulos">Albert Taraboulos</name><affiliation wicri:level="1"><nlm:aff id="aff5"><addr-line>IMRIC, The Hebrew University-Hadassah Medical School, Jerusalem, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>IMRIC, The Hebrew University-Hadassah Medical School, Jerusalem</wicri:regionArea></affiliation></author><author><name sortKey="Kaestner, Klaus H" sort="Kaestner, Klaus H" uniqKey="Kaestner K" first="Klaus H." last="Kaestner">Klaus H. Kaestner</name><affiliation wicri:level="1"><nlm:aff id="aff6"><addr-line>Department of Genetics, Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics, Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania</wicri:regionArea></affiliation></author><author><name sortKey="Greene, Lois E" sort="Greene, Lois E" uniqKey="Greene L" first="Lois E." last="Greene">Lois E. Greene</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Laboratory of Cell Biology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Cell Biology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Elpeleg, Orly" sort="Elpeleg, Orly" uniqKey="Elpeleg O" first="Orly" last="Elpeleg">Orly Elpeleg</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem</wicri:regionArea></affiliation></author></analytic><series><title level="j">PLoS ONE</title><idno type="eISSN">1932-6203</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Parkinson disease is caused by neuronal loss in the substantia nigra which manifests by abnormality of movement, muscle tone, and postural stability. Several genes have been implicated in the pathogenesis of Parkinson disease, but the underlying molecular basis is still unknown for ∼70% of the patients. Using homozygosity mapping and whole exome sequencing we identified a deleterious mutation in <italic>DNAJC6</italic> in two patients with juvenile Parkinsonism. The mutation was associated with abnormal transcripts and marked reduced DNAJC6 mRNA level. <italic>DNAJC6</italic> encodes the HSP40 Auxilin, a protein which is selectively expressed in neurons and confers specificity to the ATPase activity of its partner Hcs70 in clathrin uncoating. In Auxilin null mice it was previously shown that the abnormally increased retention of assembled clathrin on vesicles and in empty cages leads to impaired synaptic vesicle recycling and perturbed clathrin mediated endocytosis. Endocytosis function, studied by transferring uptake, was normal in fibroblasts from our patients, likely because of the presence of another J-domain containing partner which co-chaperones Hsc70-mediated uncoating activity in non-neuronal cells. The present report underscores the importance of the endocytic/lysosomal pathway in the pathogenesis of Parkinson disease and other forms of Parkinsonism.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Gasser, T" uniqKey="Gasser T">T Gasser</name></author><author><name sortKey="Hardy, J" uniqKey="Hardy J">J Hardy</name></author><author><name sortKey="Mizuno, Y" uniqKey="Mizuno Y">Y Mizuno</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dauwerse, Jg" uniqKey="Dauwerse J">JG Dauwerse</name></author><author><name sortKey="Dixon, J" uniqKey="Dixon J">J Dixon</name></author><author><name sortKey="Seland, S" uniqKey="Seland S">S Seland</name></author><author><name sortKey="Ruivenkamp, Ca" uniqKey="Ruivenkamp C">CA Ruivenkamp</name></author><author><name sortKey="Van Haeringen, A" uniqKey="Van Haeringen A">A van Haeringen</name></author></analytic></biblStruct><biblStruct><analytic><author><name 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<front><journal-meta><journal-id journal-id-type="nlm-ta">PLoS One</journal-id><journal-id journal-id-type="iso-abbrev">PLoS ONE</journal-id><journal-id journal-id-type="publisher-id">plos</journal-id><journal-id journal-id-type="pmc">plosone</journal-id><journal-title-group><journal-title>PLoS ONE</journal-title></journal-title-group><issn pub-type="epub">1932-6203</issn><publisher><publisher-name>Public Library of Science</publisher-name><publisher-loc>San Francisco, USA</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22563501</article-id><article-id pub-id-type="pmc">3341348</article-id><article-id pub-id-type="publisher-id">PONE-D-12-04451</article-id><article-id pub-id-type="doi">10.1371/journal.pone.0036458</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="Discipline-v2"><subject>Biology</subject><subj-group><subject>Anatomy and Physiology</subject><subj-group><subject>Neurological System</subject><subj-group><subject>Neural Pathways</subject><subject>Neuroanatomy</subject></subj-group></subj-group></subj-group><subj-group><subject>Genetics</subject><subj-group><subject>Genetics of Disease</subject></subj-group></subj-group><subj-group><subject>Neuroscience</subject><subj-group><subject>Neurophysiology</subject><subj-group><subject>Synapses</subject></subj-group></subj-group><subj-group><subject>Behavioral Neuroscience</subject><subject>Cellular Neuroscience</subject><subject>Molecular Neuroscience</subject><subject>Neurobiology of Disease and Regeneration</subject></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v2"><subject>Medicine</subject><subj-group><subject>Diagnostic Medicine</subject><subj-group><subject>Pathology</subject><subj-group><subject>Clinical Pathology</subject><subj-group><subject>Molecular Genetics</subject></subj-group></subj-group></subj-group></subj-group><subj-group><subject>Neurology</subject><subj-group><subject>Developmental and Pediatric Neurology</subject><subject>Parkinson Disease</subject></subj-group></subj-group></subj-group></article-categories><title-group><article-title>A Deleterious Mutation in <italic>DNAJC6</italic> Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism</article-title><alt-title alt-title-type="running-head">Auxilin-Related Parkinsonism</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Edvardson</surname><given-names>Simon</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Cinnamon</surname><given-names>Yuval</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ta-Shma</surname><given-names>Asaf</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Shaag</surname><given-names>Avraham</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Yim</surname><given-names>Yang-In</given-names></name><xref ref-type="aff" rid="aff2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Zenvirt</surname><given-names>Shamir</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jalas</surname><given-names>Chaim</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lesage</surname><given-names>Suzanne</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Brice</surname><given-names>Alexis</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Taraboulos</surname><given-names>Albert</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kaestner</surname><given-names>Klaus H.</given-names></name><xref ref-type="aff" rid="aff6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Greene</surname><given-names>Lois E.</given-names></name><xref ref-type="aff" rid="aff2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Elpeleg</surname><given-names>Orly</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="corresp" rid="cor1"><sup>*</sup></xref></contrib></contrib-group><aff id="aff1"><label>1</label><addr-line>Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel</addr-line></aff><aff id="aff2"><label>2</label><addr-line>Laboratory of Cell Biology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States of America</addr-line></aff><aff id="aff3"><label>3</label><addr-line>Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, New York, United States of America</addr-line></aff><aff id="aff4"><label>4</label><addr-line>CRICM, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitié-Salpêtrière, Paris, France</addr-line></aff><aff id="aff5"><label>5</label><addr-line>IMRIC, The Hebrew University-Hadassah Medical School, Jerusalem, Israel</addr-line></aff><aff id="aff6"><label>6</label><addr-line>Department of Genetics, Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America</addr-line></aff><contrib-group><contrib contrib-type="editor"><name><surname>Wider</surname><given-names>Christian</given-names></name><role>Editor</role><xref ref-type="aff" rid="edit1"></xref></contrib></contrib-group><aff id="edit1">Centre Hospitalier Universitaire Vaudois (CHUV), Switzerland</aff><author-notes><corresp id="cor1">* E-mail: <email>Elpeleg@hadassah.org.il</email></corresp><fn fn-type="con"><p>Conceived and designed the experiments: SE YC AS SL AB AT KHK LEG OE. Performed the experiments: YC ATS AS YIY SZ AT. Analyzed the data: SE YC ATS AS YIY SZ CJ AB AT KHK LEG OE. Contributed reagents/materials/analysis tools: CJ SL KHK LEG. Wrote the paper: SE YC AT KHK LEG OE. Managed patients, collected samples and delineated the phenotype: SE.</p></fn></author-notes><pub-date pub-type="collection"><year>2012</year></pub-date><pub-date pub-type="epub"><day>1</day><month>5</month><year>2012</year></pub-date><volume>7</volume><issue>5</issue><elocation-id>e36458</elocation-id><history><date date-type="received"><day>10</day><month>2</month><year>2012</year></date><date date-type="accepted"><day>7</day><month>4</month><year>2012</year></date></history><permissions><copyright-statement>Edvardson et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.</copyright-statement><copyright-year>2012</copyright-year></permissions><abstract><p>Parkinson disease is caused by neuronal loss in the substantia nigra which manifests by abnormality of movement, muscle tone, and postural stability. Several genes have been implicated in the pathogenesis of Parkinson disease, but the underlying molecular basis is still unknown for ∼70% of the patients. Using homozygosity mapping and whole exome sequencing we identified a deleterious mutation in <italic>DNAJC6</italic> in two patients with juvenile Parkinsonism. The mutation was associated with abnormal transcripts and marked reduced DNAJC6 mRNA level. <italic>DNAJC6</italic> encodes the HSP40 Auxilin, a protein which is selectively expressed in neurons and confers specificity to the ATPase activity of its partner Hcs70 in clathrin uncoating. In Auxilin null mice it was previously shown that the abnormally increased retention of assembled clathrin on vesicles and in empty cages leads to impaired synaptic vesicle recycling and perturbed clathrin mediated endocytosis. Endocytosis function, studied by transferring uptake, was normal in fibroblasts from our patients, likely because of the presence of another J-domain containing partner which co-chaperones Hsc70-mediated uncoating activity in non-neuronal cells. The present report underscores the importance of the endocytic/lysosomal pathway in the pathogenesis of Parkinson disease and other forms of Parkinsonism.</p></abstract><counts><page-count count="5"></page-count></counts></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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