La maladie de Parkinson en France (serveur d'exploration)

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Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration

Identifieur interne : 000539 ( Pmc/Curation ); précédent : 000538; suivant : 000540

Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration

Auteurs : Benjamin Dehay [France] ; Alfredo Ramirez [Allemagne] ; Marta Martinez-Vicente [Espagne] ; Celine Perier [Espagne] ; Marie-Hélène Canron [France] ; Evelyne Doudnikoff [France] ; Anne Vital [France] ; Miquel Vila [Espagne] ; Christine Klein [Allemagne] ; Erwan Bezard [France]

Source :

RBID : PMC:3386132

Abstract

Parkinson disease (PD) is a progressive neurodegenerative disorder pathologically characterized by the loss of dopaminergic neurons from the substantia nigra pars compacta and the presence, in affected brain regions, of protein inclusions named Lewy bodies (LBs). The ATP13A2 gene (locus PARK9) encodes the protein ATP13A2, a lysosomal type 5 P-type ATPase that is linked to autosomal recessive familial parkinsonism. The physiological function of ATP13A2, and hence its role in PD, remains to be elucidated. Here, we show that PD-linked mutations in ATP13A2 lead to several lysosomal alterations in ATP13A2 PD patient-derived fibroblasts, including impaired lysosomal acidification, decreased proteolytic processing of lysosomal enzymes, reduced degradation of lysosomal substrates, and diminished lysosomal-mediated clearance of autophagosomes. Similar alterations are observed in stable ATP13A2-knockdown dopaminergic cell lines, which are associated with cell death. Restoration of ATP13A2 levels in ATP13A2-mutant/depleted cells restores lysosomal function and attenuates cell death. Relevant to PD, ATP13A2 levels are decreased in dopaminergic nigral neurons from patients with PD, in which ATP13A2 mostly accumulates within Lewy bodies. Our results unravel an instrumental role of ATP13A2 deficiency on lysosomal function and cell viability and demonstrate the feasibility and therapeutic potential of modulating ATP13A2 levels in the context of PD.


Url:
DOI: 10.1073/pnas.1112368109
PubMed: 22647602
PubMed Central: 3386132

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PMC:3386132

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, 08035 Barcelona,
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;</nlm:aff>
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, 23538 Lubeck,
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;</nlm:aff>
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<p>Parkinson disease (PD) is a progressive neurodegenerative disorder pathologically characterized by the loss of dopaminergic neurons from the substantia nigra pars compacta and the presence, in affected brain regions, of protein inclusions named Lewy bodies (LBs). The
<italic>ATP13A2</italic>
gene (locus PARK9) encodes the protein ATP13A2, a lysosomal type 5 P-type ATPase that is linked to autosomal recessive familial parkinsonism. The physiological function of ATP13A2, and hence its role in PD, remains to be elucidated. Here, we show that PD-linked mutations in ATP13A2 lead to several lysosomal alterations in ATP13A2 PD patient-derived fibroblasts, including impaired lysosomal acidification, decreased proteolytic processing of lysosomal enzymes, reduced degradation of lysosomal substrates, and diminished lysosomal-mediated clearance of autophagosomes. Similar alterations are observed in stable ATP13A2-knockdown dopaminergic cell lines, which are associated with cell death. Restoration of ATP13A2 levels in ATP13A2-mutant/depleted cells restores lysosomal function and attenuates cell death. Relevant to PD, ATP13A2 levels are decreased in dopaminergic nigral neurons from patients with PD, in which ATP13A2 mostly accumulates within Lewy bodies. Our results unravel an instrumental role of ATP13A2 deficiency on lysosomal function and cell viability and demonstrate the feasibility and therapeutic potential of modulating ATP13A2 levels in the context of PD.</p>
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<article-title>Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration</article-title>
<alt-title alt-title-type="short">ATP13A2 promotes lysosomal deficiency</alt-title>
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<contrib contrib-type="author">
<name>
<surname>Dehay</surname>
<given-names>Benjamin</given-names>
</name>
<xref ref-type="aff" rid="aff1">
<sup>a</sup>
</xref>
<xref ref-type="corresp" rid="cor1">
<sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Ramirez</surname>
<given-names>Alfredo</given-names>
</name>
<xref ref-type="aff" rid="aff2">
<sup>b</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Martinez-Vicente</surname>
<given-names>Marta</given-names>
</name>
<xref ref-type="aff" rid="aff3">
<sup>c</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Perier</surname>
<given-names>Celine</given-names>
</name>
<xref ref-type="aff" rid="aff3">
<sup>c</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Canron</surname>
<given-names>Marie-Hélène</given-names>
</name>
<xref ref-type="aff" rid="aff1">
<sup>a</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Doudnikoff</surname>
<given-names>Evelyne</given-names>
</name>
<xref ref-type="aff" rid="aff1">
<sup>a</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Vital</surname>
<given-names>Anne</given-names>
</name>
<xref ref-type="aff" rid="aff1">
<sup>a</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Vila</surname>
<given-names>Miquel</given-names>
</name>
<xref ref-type="aff" rid="aff3">
<sup>c</sup>
</xref>
<xref ref-type="aff" rid="aff4">
<sup>d</sup>
</xref>
<xref ref-type="aff" rid="aff5">
<sup>e</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Klein</surname>
<given-names>Christine</given-names>
</name>
<xref ref-type="aff" rid="aff2">
<sup>b</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Bezard</surname>
<given-names>Erwan</given-names>
</name>
<xref ref-type="aff" rid="aff1">
<sup>a</sup>
</xref>
</contrib>
<aff id="aff1">
<sup>a</sup>
Insitute of Neurodegenerative Diseases, University of Bordeaux Segalen, Centre National de la Recherche Scientifique Unité Mixte de Recherche 5293, 33076 Bordeaux, France;</aff>
<aff id="aff2">
<sup>b</sup>
Section of Clinical and Molecular Neurogenetics, Department of Neurology,
<institution>University of Lubeck</institution>
, 23538 Lubeck,
<country>Germany</country>
;</aff>
<aff id="aff3">
<sup>c</sup>
Neurodegenerative Diseases Research Group, Vall d’Hebron Research Institute,
<institution>Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas</institution>
, 08035 Barcelona,
<country>Spain</country>
;</aff>
<aff id="aff4">
<sup>d</sup>
Department of Biochemistry and Molecular Biology,
<institution>Autonomous University of Barcelona</institution>
, 08193 Bellaterra, Barcelona,
<country>Spain</country>
; and</aff>
<aff id="aff5">
<sup>e</sup>
<institution>Catalan Institution for Research and Advanced Studies</institution>
, 08010 Barcelona,
<country>Spain</country>
</aff>
</contrib-group>
<author-notes>
<corresp id="cor1">
<sup>1</sup>
To whom correspondence should be addressed. E-mail:
<email>benjamin.dehay@u-bordeaux2.fr</email>
.</corresp>
<fn fn-type="edited-by">
<p>Edited by Thomas C. Südhof, Stanford University School of Medicine, Palo Alto, CA, and approved May 1, 2012 (received for review July 29, 2011)</p>
</fn>
<fn fn-type="con">
<p>Author contributions: B.D. and M.M.-V. designed research; B.D., M.-H.C., and E.D. performed research; A.R., M.M.-V., C.P., A.V., M.V., and C.K. contributed new reagents/analytic tools; B.D., M.M.-V., and E.B. analyzed data; and B.D., M.V., and E.B. wrote the paper.</p>
</fn>
</author-notes>
<pub-date pub-type="ppub">
<day>12</day>
<month>6</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="epub">
<day>30</day>
<month>5</month>
<year>2012</year>
</pub-date>
<volume>109</volume>
<issue>24</issue>
<fpage>9611</fpage>
<lpage>9616</lpage>
<self-uri xlink:title="pdf" xlink:type="simple" xlink:href="pnas.201112368.pdf"></self-uri>
<abstract>
<p>Parkinson disease (PD) is a progressive neurodegenerative disorder pathologically characterized by the loss of dopaminergic neurons from the substantia nigra pars compacta and the presence, in affected brain regions, of protein inclusions named Lewy bodies (LBs). The
<italic>ATP13A2</italic>
gene (locus PARK9) encodes the protein ATP13A2, a lysosomal type 5 P-type ATPase that is linked to autosomal recessive familial parkinsonism. The physiological function of ATP13A2, and hence its role in PD, remains to be elucidated. Here, we show that PD-linked mutations in ATP13A2 lead to several lysosomal alterations in ATP13A2 PD patient-derived fibroblasts, including impaired lysosomal acidification, decreased proteolytic processing of lysosomal enzymes, reduced degradation of lysosomal substrates, and diminished lysosomal-mediated clearance of autophagosomes. Similar alterations are observed in stable ATP13A2-knockdown dopaminergic cell lines, which are associated with cell death. Restoration of ATP13A2 levels in ATP13A2-mutant/depleted cells restores lysosomal function and attenuates cell death. Relevant to PD, ATP13A2 levels are decreased in dopaminergic nigral neurons from patients with PD, in which ATP13A2 mostly accumulates within Lewy bodies. Our results unravel an instrumental role of ATP13A2 deficiency on lysosomal function and cell viability and demonstrate the feasibility and therapeutic potential of modulating ATP13A2 levels in the context of PD.</p>
</abstract>
<kwd-group>
<kwd>autophagy</kwd>
<kwd>lysosome</kwd>
<kwd>neurodegeneration</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>

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