Involvement of the immune system, endocytosis and EIF2 signaling in both genetically determined and sporadic forms of Parkinson's disease.
Identifieur interne : 001272 ( Ncbi/Curation ); précédent : 001271; suivant : 001273Involvement of the immune system, endocytosis and EIF2 signaling in both genetically determined and sporadic forms of Parkinson's disease.
Auteurs : Eugénie Mutez [France] ; Aurore Nkiliza [France] ; Karim Belarbi [France] ; Amélie De Broucker [France] ; Christel Vanbesien-Mailliot [France] ; Séverine Bleuse [France] ; Aurélie Duflot [France] ; Thomas Comptdaer [France] ; Pierre Semaille [France] ; Renaud Blervaque [France] ; David Hot [France] ; Frederic Leprêtre [France] ; Martin Figeac [France] ; Alain Destée [France] ; Marie-Christine Chartier-Harlin [France]Source :
- Neurobiology of disease [ 1095-953X ] ; 2014.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Endocytosis (genetics), Eukaryotic Initiation Factor-2 (metabolism), Female, Gene Expression Profiling, Humans, Immune System (physiopathology), Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Leukocytes, Mononuclear (metabolism), Leukocytes, Mononuclear (pathology), Male, Middle Aged, Mutation (genetics), Parkinson Disease (genetics), Parkinson Disease (immunology), Parkinson Disease (metabolism), Protein-Serine-Threonine Kinases (genetics), Signal Transduction (genetics).
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- chemical , metabolism : Eukaryotic Initiation Factor-2.
- genetics : Endocytosis, Mutation, Parkinson Disease, Signal Transduction.
- immunology : Parkinson Disease.
- metabolism : Leukocytes, Mononuclear, Parkinson Disease.
- pathology : Leukocytes, Mononuclear.
- physiopathology : Immune System.
- Adult, Aged, Aged, 80 and over, Female, Gene Expression Profiling, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged.
Abstract
The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is a common genetic cause of Parkinson's disease (PD). Although patients with sporadic PD and individuals with LRRK2-linked PD display the classical PD phenotype, it is not known whether or not the same biological pathways are deregulated in each context. By using transcriptome profiling, we investigated the deregulation of various biological pathways in a total of 47 peripheral blood mononuclear cell (PBMC) samples from patients with sporadic PD, patients heterozygous for the LRRK2 G2019S mutation compared to healthy controls. We found that the deregulation patterns were indeed similar in PBMCs obtained from patients with sporadic PD and from LRRK2 G2019S carriers, with dysfunctions in mitochondrial pathways, cell survival signaling, cancerization, endocytosis signaling and iron metabolism. Analysis of our PBMC data and other publicly available transcriptome datasets (for whole blood samples) showed that deregulation of the immune system, endocytosis and eukaryotic initiation factor 2 (EIF2) signaling are the main features of transcriptome profiles in PD (since they are also present in the transcriptome of dopaminergic neurons from patients). Transcriptome analysis of PBMCs is thus valuable for (i) characterizing the pathophysiological pathways shared by genetic and sporadic forms of PD and (ii) identifying potential biomarkers and therapeutic targets. This minimally invasive approach opens up tremendous perspectives for better diagnosis and therapy of neurodegenerative diseases because it can be applied from the earliest stages of the disease onwards.
DOI: 10.1016/j.nbd.2013.11.007
PubMed: 24269915
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Univ Lille Nord de France, Lille, France; Movement Disorders Department, Neurologic Clinic, University Hospital, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France; Movement Disorders Department, Neurologic Clinic, University Hospital, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Duflot, Aurelie" sort="Duflot, Aurelie" uniqKey="Duflot A" first="Aurélie" last="Duflot">Aurélie Duflot</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Comptdaer, Thomas" sort="Comptdaer, Thomas" uniqKey="Comptdaer T" first="Thomas" last="Comptdaer">Thomas Comptdaer</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Semaille, Pierre" sort="Semaille, Pierre" uniqKey="Semaille P" first="Pierre" last="Semaille">Pierre Semaille</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Blervaque, Renaud" sort="Blervaque, Renaud" uniqKey="Blervaque R" first="Renaud" last="Blervaque">Renaud Blervaque</name><affiliation wicri:level="3"><nlm:affiliation>Center for Infection and Immunity, Institut Pasteur de Lille, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Center for Infection and Immunity, Institut Pasteur de Lille, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Hot, David" sort="Hot, David" uniqKey="Hot D" first="David" last="Hot">David Hot</name><affiliation wicri:level="3"><nlm:affiliation>Center for Infection and Immunity, Institut Pasteur de Lille, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Center for Infection and Immunity, Institut Pasteur de Lille, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Lepretre, Frederic" sort="Lepretre, Frederic" uniqKey="Lepretre F" first="Frederic" last="Leprêtre">Frederic Leprêtre</name><affiliation wicri:level="3"><nlm:affiliation>Functional Genomic Platform, UDSL, IFR114, IRCL, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Functional Genomic Platform, UDSL, IFR114, IRCL, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Figeac, Martin" sort="Figeac, Martin" uniqKey="Figeac M" first="Martin" last="Figeac">Martin Figeac</name><affiliation wicri:level="3"><nlm:affiliation>Functional Genomic Platform, UDSL, IFR114, IRCL, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Functional Genomic Platform, UDSL, IFR114, IRCL, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France; Movement Disorders Department, Neurologic Clinic, University Hospital, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France; Movement Disorders Department, Neurologic Clinic, University Hospital, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName><placeName><settlement type="city">Lille</settlement><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName><orgName type="university" n="3">Université Lille 2</orgName><orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName><placeName><settlement type="city">Lille</settlement><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName><orgName type="university" n="3">Université Lille 2</orgName><orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName></affiliation></author><author><name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France. Electronic address: marie-christine.chartier-harlin@inserm.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24269915</idno><idno type="pmid">24269915</idno><idno type="doi">10.1016/j.nbd.2013.11.007</idno><idno type="wicri:Area/PubMed/Corpus">000608</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000608</idno><idno type="wicri:Area/PubMed/Curation">000586</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000586</idno><idno type="wicri:Area/PubMed/Checkpoint">000586</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000586</idno><idno type="wicri:Area/Ncbi/Merge">001272</idno><idno type="wicri:Area/Ncbi/Curation">001272</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Involvement of the immune system, endocytosis and EIF2 signaling in both genetically determined and sporadic forms of Parkinson's disease.</title><author><name sortKey="Mutez, Eugenie" sort="Mutez, Eugenie" uniqKey="Mutez E" first="Eugénie" last="Mutez">Eugénie Mutez</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France; Movement Disorders Department, Neurologic Clinic, University Hospital, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France; Movement Disorders Department, Neurologic Clinic, University Hospital, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Nkiliza, Aurore" sort="Nkiliza, Aurore" uniqKey="Nkiliza A" first="Aurore" last="Nkiliza">Aurore Nkiliza</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Belarbi, Karim" sort="Belarbi, Karim" uniqKey="Belarbi K" first="Karim" last="Belarbi">Karim Belarbi</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="De Broucker, Amelie" sort="De Broucker, Amelie" uniqKey="De Broucker A" first="Amélie" last="De Broucker">Amélie De Broucker</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Vanbesien Mailliot, Christel" sort="Vanbesien Mailliot, Christel" uniqKey="Vanbesien Mailliot C" first="Christel" last="Vanbesien-Mailliot">Christel Vanbesien-Mailliot</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Bleuse, Severine" sort="Bleuse, Severine" uniqKey="Bleuse S" first="Séverine" last="Bleuse">Séverine Bleuse</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France; Movement Disorders Department, Neurologic Clinic, University Hospital, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France; Movement Disorders Department, Neurologic Clinic, University Hospital, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Duflot, Aurelie" sort="Duflot, Aurelie" uniqKey="Duflot A" first="Aurélie" last="Duflot">Aurélie Duflot</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Comptdaer, Thomas" sort="Comptdaer, Thomas" uniqKey="Comptdaer T" first="Thomas" last="Comptdaer">Thomas Comptdaer</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Semaille, Pierre" sort="Semaille, Pierre" uniqKey="Semaille P" first="Pierre" last="Semaille">Pierre Semaille</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Blervaque, Renaud" sort="Blervaque, Renaud" uniqKey="Blervaque R" first="Renaud" last="Blervaque">Renaud Blervaque</name><affiliation wicri:level="3"><nlm:affiliation>Center for Infection and Immunity, Institut Pasteur de Lille, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Center for Infection and Immunity, Institut Pasteur de Lille, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Hot, David" sort="Hot, David" uniqKey="Hot D" first="David" last="Hot">David Hot</name><affiliation wicri:level="3"><nlm:affiliation>Center for Infection and Immunity, Institut Pasteur de Lille, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Center for Infection and Immunity, Institut Pasteur de Lille, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Lepretre, Frederic" sort="Lepretre, Frederic" uniqKey="Lepretre F" first="Frederic" last="Leprêtre">Frederic Leprêtre</name><affiliation wicri:level="3"><nlm:affiliation>Functional Genomic Platform, UDSL, IFR114, IRCL, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Functional Genomic Platform, UDSL, IFR114, IRCL, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Figeac, Martin" sort="Figeac, Martin" uniqKey="Figeac M" first="Martin" last="Figeac">Martin Figeac</name><affiliation wicri:level="3"><nlm:affiliation>Functional Genomic Platform, UDSL, IFR114, IRCL, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Functional Genomic Platform, UDSL, IFR114, IRCL, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France; Movement Disorders Department, Neurologic Clinic, University Hospital, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France; Movement Disorders Department, Neurologic Clinic, University Hospital, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName><placeName><settlement type="city">Lille</settlement><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName><orgName type="university" n="3">Université Lille 2</orgName><orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName><placeName><settlement type="city">Lille</settlement><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName><orgName type="university" n="3">Université Lille 2</orgName><orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName></affiliation></author><author><name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name><affiliation wicri:level="3"><nlm:affiliation>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille, France. Electronic address: marie-christine.chartier-harlin@inserm.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR 837 INSERM, Team 6, JPArc, IRCL, Lille, France; Univ Lille Nord de France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author></analytic><series><title level="j">Neurobiology of disease</title><idno type="eISSN">1095-953X</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Endocytosis (genetics)</term><term>Eukaryotic Initiation Factor-2 (metabolism)</term><term>Female</term><term>Gene Expression Profiling</term><term>Humans</term><term>Immune System (physiopathology)</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Leukocytes, Mononuclear (metabolism)</term><term>Leukocytes, Mononuclear (pathology)</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (immunology)</term><term>Parkinson Disease (metabolism)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Signal Transduction (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Eukaryotic Initiation Factor-2</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Endocytosis</term><term>Mutation</term><term>Parkinson Disease</term><term>Signal Transduction</term></keywords><keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Leukocytes, Mononuclear</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Leukocytes, Mononuclear</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Immune System</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Gene Expression Profiling</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is a common genetic cause of Parkinson's disease (PD). Although patients with sporadic PD and individuals with LRRK2-linked PD display the classical PD phenotype, it is not known whether or not the same biological pathways are deregulated in each context. By using transcriptome profiling, we investigated the deregulation of various biological pathways in a total of 47 peripheral blood mononuclear cell (PBMC) samples from patients with sporadic PD, patients heterozygous for the LRRK2 G2019S mutation compared to healthy controls. We found that the deregulation patterns were indeed similar in PBMCs obtained from patients with sporadic PD and from LRRK2 G2019S carriers, with dysfunctions in mitochondrial pathways, cell survival signaling, cancerization, endocytosis signaling and iron metabolism. Analysis of our PBMC data and other publicly available transcriptome datasets (for whole blood samples) showed that deregulation of the immune system, endocytosis and eukaryotic initiation factor 2 (EIF2) signaling are the main features of transcriptome profiles in PD (since they are also present in the transcriptome of dopaminergic neurons from patients). Transcriptome analysis of PBMCs is thus valuable for (i) characterizing the pathophysiological pathways shared by genetic and sporadic forms of PD and (ii) identifying potential biomarkers and therapeutic targets. This minimally invasive approach opens up tremendous perspectives for better diagnosis and therapy of neurodegenerative diseases because it can be applied from the earliest stages of the disease onwards.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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