Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease
Identifieur interne : 004F33 ( Main/Merge ); précédent : 004F32; suivant : 004F34Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease
Auteurs : Carsten Saft [Allemagne] ; Jochen Zange [Allemagne] ; Jürgen Andrich [Allemagne] ; Klaus Müller [Allemagne] ; Katrin Lindenberg [Allemagne] ; Bernhard Landwehrmeyer [Allemagne] ; Matthias Vorgerd [Allemagne] ; Peter H. Kraus [Allemagne] ; Horst Przuntek [Allemagne] ; Ludger Schöls [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-06.
English descriptors
- KwdEn :
- 31‐phosphorus magnetic resonance spectroscopy, Adenosine Triphosphate (metabolism), Adult, Case-Control Studies, Energy Metabolism (physiology), Exercise (physiology), Female, Humans, Huntington Disease (diagnosis), Huntington Disease (genetics), Huntington Disease (physiopathology), Huntington's disease, Immunohistochemistry (methods), Magnetic Resonance Spectroscopy (methods), Male, Middle Aged, Mitochondrial Diseases (diagnosis), Mitochondrial Diseases (etiology), Mitochondrial Diseases (genetics), Muscle, Skeletal (physiopathology), Mutation, Nerve Tissue Proteins (genetics), Nerve Tissue Proteins (metabolism), Nuclear Proteins (genetics), Nuclear Proteins (metabolism), Phosphocreatine (metabolism), Reaction Time (physiology), energy metabolism, mitochondrial impairment, muscle histology.
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Nuclear Proteins.
- chemical , metabolism : Adenosine Triphosphate, Nerve Tissue Proteins, Nuclear Proteins, Phosphocreatine.
- diagnosis : Huntington Disease, Mitochondrial Diseases.
- etiology : Mitochondrial Diseases.
- genetics : Huntington Disease, Mitochondrial Diseases.
- methods : Immunohistochemistry, Magnetic Resonance Spectroscopy.
- physiology : Energy Metabolism, Exercise, Reaction Time.
- physiopathology : Huntington Disease, Muscle, Skeletal.
- Adult, Case-Control Studies, Female, Humans, Male, Middle Aged, Mutation.
Abstract
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a CAG repeat expansion in the IT‐15 gene; however, it remains unknown how the mutation leads to selective neurodegeneration. Several lines of evidence suggest impaired mitochondrial function as a component of the neurodegenerative process in HD. We assessed energy metabolism in the skeletal muscle of 15 HD patients and 12 asymptomatic mutation carriers in vivo using 31P magnetic resonance spectroscopy. Phosphocreatine recovery after exercise is a direct measure of ATP synthesis and was slowed significantly in HD patients and mutation carriers in comparison to age‐ and gender‐matched healthy controls. We found that oxidative function is impaired to a similar extent in manifest HD patients and asymptomatic mutation carriers. Our findings suggest that mitochondrial dysfunction is an early and persistent component of the pathophysiology of HD. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20373
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2005-06">2005-06</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="674">674</biblScope><biblScope unit="page" to="679">679</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">A3D255DE19862072A432E32672D776BE856005CC</idno><idno type="DOI">10.1002/mds.20373</idno><idno type="ArticleID">MDS20373</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>31‐phosphorus magnetic resonance spectroscopy</term><term>Adenosine Triphosphate (metabolism)</term><term>Adult</term><term>Case-Control Studies</term><term>Energy Metabolism (physiology)</term><term>Exercise (physiology)</term><term>Female</term><term>Humans</term><term>Huntington Disease (diagnosis)</term><term>Huntington Disease (genetics)</term><term>Huntington Disease (physiopathology)</term><term>Huntington's disease</term><term>Immunohistochemistry (methods)</term><term>Magnetic Resonance Spectroscopy (methods)</term><term>Male</term><term>Middle Aged</term><term>Mitochondrial Diseases (diagnosis)</term><term>Mitochondrial Diseases (etiology)</term><term>Mitochondrial Diseases (genetics)</term><term>Muscle, Skeletal (physiopathology)</term><term>Mutation</term><term>Nerve Tissue Proteins (genetics)</term><term>Nerve Tissue Proteins (metabolism)</term><term>Nuclear Proteins (genetics)</term><term>Nuclear Proteins (metabolism)</term><term>Phosphocreatine (metabolism)</term><term>Reaction Time (physiology)</term><term>energy metabolism</term><term>mitochondrial impairment</term><term>muscle histology</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Nuclear Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Adenosine Triphosphate</term><term>Nerve Tissue Proteins</term><term>Nuclear Proteins</term><term>Phosphocreatine</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Huntington Disease</term><term>Mitochondrial Diseases</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Mitochondrial Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term><term>Mitochondrial Diseases</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Immunohistochemistry</term><term>Magnetic Resonance Spectroscopy</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Energy Metabolism</term><term>Exercise</term><term>Reaction Time</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Huntington Disease</term><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Case-Control Studies</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a CAG repeat expansion in the IT‐15 gene; however, it remains unknown how the mutation leads to selective neurodegeneration. Several lines of evidence suggest impaired mitochondrial function as a component of the neurodegenerative process in HD. We assessed energy metabolism in the skeletal muscle of 15 HD patients and 12 asymptomatic mutation carriers in vivo using 31P magnetic resonance spectroscopy. Phosphocreatine recovery after exercise is a direct measure of ATP synthesis and was slowed significantly in HD patients and mutation carriers in comparison to age‐ and gender‐matched healthy controls. We found that oxidative function is impaired to a similar extent in manifest HD patients and asymptomatic mutation carriers. Our findings suggest that mitochondrial dysfunction is an early and persistent component of the pathophysiology of HD. © 2004 Movement Disorder Society</div></front></TEI><double doi="10.1002/mds.20373"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease</title><author><name sortKey="Saft, Carsten" sort="Saft, Carsten" uniqKey="Saft C" first="Carsten" last="Saft">Carsten Saft</name></author><author><name sortKey="Zange, Jochen" sort="Zange, Jochen" uniqKey="Zange J" first="Jochen" last="Zange">Jochen Zange</name></author><author><name sortKey="Andrich, Jurgen" sort="Andrich, Jurgen" uniqKey="Andrich J" first="Jürgen" last="Andrich">Jürgen Andrich</name></author><author><name sortKey="Muller, Klaus" sort="Muller, Klaus" uniqKey="Muller K" first="Klaus" last="Müller">Klaus Müller</name></author><author><name sortKey="Lindenberg, Katrin" sort="Lindenberg, Katrin" uniqKey="Lindenberg K" first="Katrin" last="Lindenberg">Katrin Lindenberg</name></author><author><name sortKey="Landwehrmeyer, Bernhard" sort="Landwehrmeyer, Bernhard" uniqKey="Landwehrmeyer B" first="Bernhard" last="Landwehrmeyer">Bernhard Landwehrmeyer</name></author><author><name sortKey="Vorgerd, Matthias" sort="Vorgerd, Matthias" uniqKey="Vorgerd M" first="Matthias" last="Vorgerd">Matthias Vorgerd</name></author><author><name sortKey="Kraus, Peter H" sort="Kraus, Peter H" uniqKey="Kraus P" first="Peter H." last="Kraus">Peter H. Kraus</name></author><author><name sortKey="Przuntek, Horst" sort="Przuntek, Horst" uniqKey="Przuntek H" first="Horst" last="Przuntek">Horst Przuntek</name></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:A3D255DE19862072A432E32672D776BE856005CC</idno><date when="2005" year="2005">2005</date><idno type="doi">10.1002/mds.20373</idno><idno type="url">https://api.istex.fr/document/A3D255DE19862072A432E32672D776BE856005CC/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002895</idno><idno type="wicri:Area/Istex/Curation">002895</idno><idno type="wicri:Area/Istex/Checkpoint">002256</idno><idno type="wicri:doubleKey">0885-3185:2005:Saft C:mitochondrial:impairment:in</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease</title><author><name sortKey="Saft, Carsten" sort="Saft, Carsten" uniqKey="Saft C" first="Carsten" last="Saft">Carsten Saft</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, St. Josef Hospital, Ruhr‐University Bochum</wicri:regionArea><wicri:noRegion>Ruhr‐University Bochum</wicri:noRegion><wicri:noRegion>Ruhr‐University Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Zange, Jochen" sort="Zange, Jochen" uniqKey="Zange J" first="Jochen" last="Zange">Jochen Zange</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Aerospace Medicine, German Aerospace Center, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Andrich, Jurgen" sort="Andrich, Jurgen" uniqKey="Andrich J" first="Jürgen" last="Andrich">Jürgen Andrich</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, St. Josef Hospital, Ruhr‐University Bochum</wicri:regionArea><wicri:noRegion>Ruhr‐University Bochum</wicri:noRegion><wicri:noRegion>Ruhr‐University Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Muller, Klaus" sort="Muller, Klaus" uniqKey="Muller K" first="Klaus" last="Müller">Klaus Müller</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Aerospace Medicine, German Aerospace Center, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Lindenberg, Katrin" sort="Lindenberg, Katrin" uniqKey="Lindenberg K" first="Katrin" last="Lindenberg">Katrin Lindenberg</name><affiliation wicri:level="4"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Ulm, Ulm</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author><author><name sortKey="Landwehrmeyer, Bernhard" sort="Landwehrmeyer, Bernhard" uniqKey="Landwehrmeyer B" first="Bernhard" last="Landwehrmeyer">Bernhard Landwehrmeyer</name><affiliation wicri:level="4"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Ulm, Ulm</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author><author><name sortKey="Vorgerd, Matthias" sort="Vorgerd, Matthias" uniqKey="Vorgerd M" first="Matthias" last="Vorgerd">Matthias Vorgerd</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Kliniken Bergmannsheil, Ruhr‐University Bochum, Bochum</wicri:regionArea><wicri:noRegion>Bochum</wicri:noRegion><wicri:noRegion>Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Kraus, Peter H" sort="Kraus, Peter H" uniqKey="Kraus P" first="Peter H." last="Kraus">Peter H. Kraus</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, St. Josef Hospital, Ruhr‐University Bochum</wicri:regionArea><wicri:noRegion>Ruhr‐University Bochum</wicri:noRegion><wicri:noRegion>Ruhr‐University Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Przuntek, Horst" sort="Przuntek, Horst" uniqKey="Przuntek H" first="Horst" last="Przuntek">Horst Przuntek</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, St. Josef Hospital, Ruhr‐University Bochum</wicri:regionArea><wicri:noRegion>Ruhr‐University Bochum</wicri:noRegion><wicri:noRegion>Ruhr‐University Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2005-06">2005-06</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="674">674</biblScope><biblScope unit="page" to="679">679</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">A3D255DE19862072A432E32672D776BE856005CC</idno><idno type="DOI">10.1002/mds.20373</idno><idno type="ArticleID">MDS20373</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>31‐phosphorus magnetic resonance spectroscopy</term><term>Huntington's disease</term><term>energy metabolism</term><term>mitochondrial impairment</term><term>muscle histology</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a CAG repeat expansion in the IT‐15 gene; however, it remains unknown how the mutation leads to selective neurodegeneration. Several lines of evidence suggest impaired mitochondrial function as a component of the neurodegenerative process in HD. We assessed energy metabolism in the skeletal muscle of 15 HD patients and 12 asymptomatic mutation carriers in vivo using 31P magnetic resonance spectroscopy. Phosphocreatine recovery after exercise is a direct measure of ATP synthesis and was slowed significantly in HD patients and mutation carriers in comparison to age‐ and gender‐matched healthy controls. We found that oxidative function is impaired to a similar extent in manifest HD patients and asymptomatic mutation carriers. Our findings suggest that mitochondrial dysfunction is an early and persistent component of the pathophysiology of HD. © 2004 Movement Disorder Society</div></front></TEI></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease.</title><author><name sortKey="Saft, Carsten" sort="Saft, Carsten" uniqKey="Saft C" first="Carsten" last="Saft">Carsten Saft</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, St. Josef Hospital, Ruhr-University Bochum, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, St. Josef Hospital, Ruhr-University Bochum</wicri:regionArea><wicri:noRegion>Ruhr-University Bochum</wicri:noRegion><wicri:noRegion>Ruhr-University Bochum</wicri:noRegion><wicri:noRegion>Ruhr-University Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Zange, Jochen" sort="Zange, Jochen" uniqKey="Zange J" first="Jochen" last="Zange">Jochen Zange</name></author><author><name sortKey="Andrich, Jurgen" sort="Andrich, Jurgen" uniqKey="Andrich J" first="Jürgen" last="Andrich">Jürgen Andrich</name></author><author><name sortKey="Muller, Klaus" sort="Muller, Klaus" uniqKey="Muller K" first="Klaus" last="Müller">Klaus Müller</name></author><author><name sortKey="Lindenberg, Katrin" sort="Lindenberg, Katrin" uniqKey="Lindenberg K" first="Katrin" last="Lindenberg">Katrin Lindenberg</name></author><author><name sortKey="Landwehrmeyer, Bernhard" sort="Landwehrmeyer, Bernhard" uniqKey="Landwehrmeyer B" first="Bernhard" last="Landwehrmeyer">Bernhard Landwehrmeyer</name></author><author><name sortKey="Vorgerd, Matthias" sort="Vorgerd, Matthias" uniqKey="Vorgerd M" first="Matthias" last="Vorgerd">Matthias Vorgerd</name></author><author><name sortKey="Kraus, Peter H" sort="Kraus, Peter H" uniqKey="Kraus P" first="Peter H" last="Kraus">Peter H. Kraus</name></author><author><name sortKey="Przuntek, Horst" sort="Przuntek, Horst" uniqKey="Przuntek H" first="Horst" last="Przuntek">Horst Przuntek</name></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2005">2005</date><idno type="doi">10.1002/mds.20373</idno><idno type="RBID">pubmed:15704211</idno><idno type="pmid">15704211</idno><idno type="wicri:Area/PubMed/Corpus">003152</idno><idno type="wicri:Area/PubMed/Curation">003152</idno><idno type="wicri:Area/PubMed/Checkpoint">003061</idno><idno type="wicri:Area/Ncbi/Merge">001149</idno><idno type="wicri:Area/Ncbi/Curation">001149</idno><idno type="wicri:Area/Ncbi/Checkpoint">001149</idno><idno type="wicri:doubleKey">0885-3185:2005:Saft C:mitochondrial:impairment:in</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease.</title><author><name sortKey="Saft, Carsten" sort="Saft, Carsten" uniqKey="Saft C" first="Carsten" last="Saft">Carsten Saft</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, St. Josef Hospital, Ruhr-University Bochum, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, St. Josef Hospital, Ruhr-University Bochum</wicri:regionArea><wicri:noRegion>Ruhr-University Bochum</wicri:noRegion><wicri:noRegion>Ruhr-University Bochum</wicri:noRegion><wicri:noRegion>Ruhr-University Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Zange, Jochen" sort="Zange, Jochen" uniqKey="Zange J" first="Jochen" last="Zange">Jochen Zange</name></author><author><name sortKey="Andrich, Jurgen" sort="Andrich, Jurgen" uniqKey="Andrich J" first="Jürgen" last="Andrich">Jürgen Andrich</name></author><author><name sortKey="Muller, Klaus" sort="Muller, Klaus" uniqKey="Muller K" first="Klaus" last="Müller">Klaus Müller</name></author><author><name sortKey="Lindenberg, Katrin" sort="Lindenberg, Katrin" uniqKey="Lindenberg K" first="Katrin" last="Lindenberg">Katrin Lindenberg</name></author><author><name sortKey="Landwehrmeyer, Bernhard" sort="Landwehrmeyer, Bernhard" uniqKey="Landwehrmeyer B" first="Bernhard" last="Landwehrmeyer">Bernhard Landwehrmeyer</name></author><author><name sortKey="Vorgerd, Matthias" sort="Vorgerd, Matthias" uniqKey="Vorgerd M" first="Matthias" last="Vorgerd">Matthias Vorgerd</name></author><author><name sortKey="Kraus, Peter H" sort="Kraus, Peter H" uniqKey="Kraus P" first="Peter H" last="Kraus">Peter H. Kraus</name></author><author><name sortKey="Przuntek, Horst" sort="Przuntek, Horst" uniqKey="Przuntek H" first="Horst" last="Przuntek">Horst Przuntek</name></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adenosine Triphosphate (metabolism)</term><term>Adult</term><term>Case-Control Studies</term><term>Energy Metabolism (physiology)</term><term>Exercise (physiology)</term><term>Female</term><term>Humans</term><term>Huntington Disease (diagnosis)</term><term>Huntington Disease (genetics)</term><term>Huntington Disease (physiopathology)</term><term>Immunohistochemistry (methods)</term><term>Magnetic Resonance Spectroscopy (methods)</term><term>Male</term><term>Middle Aged</term><term>Mitochondrial Diseases (diagnosis)</term><term>Mitochondrial Diseases (etiology)</term><term>Mitochondrial Diseases (genetics)</term><term>Muscle, Skeletal (physiopathology)</term><term>Mutation</term><term>Nerve Tissue Proteins (genetics)</term><term>Nerve Tissue Proteins (metabolism)</term><term>Nuclear Proteins (genetics)</term><term>Nuclear Proteins (metabolism)</term><term>Phosphocreatine (metabolism)</term><term>Reaction Time (physiology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Nuclear Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Adenosine Triphosphate</term><term>Nerve Tissue Proteins</term><term>Nuclear Proteins</term><term>Phosphocreatine</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Huntington Disease</term><term>Mitochondrial Diseases</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Mitochondrial Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term><term>Mitochondrial Diseases</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Immunohistochemistry</term><term>Magnetic Resonance Spectroscopy</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Energy Metabolism</term><term>Exercise</term><term>Reaction Time</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Huntington Disease</term><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Case-Control Studies</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a CAG repeat expansion in the IT-15 gene; however, it remains unknown how the mutation leads to selective neurodegeneration. Several lines of evidence suggest impaired mitochondrial function as a component of the neurodegenerative process in HD. We assessed energy metabolism in the skeletal muscle of 15 HD patients and 12 asymptomatic mutation carriers in vivo using 31P magnetic resonance spectroscopy. Phosphocreatine recovery after exercise is a direct measure of ATP synthesis and was slowed significantly in HD patients and mutation carriers in comparison to age- and gender-matched healthy controls. We found that oxidative function is impaired to a similar extent in manifest HD patients and asymptomatic mutation carriers. Our findings suggest that mitochondrial dysfunction is an early and persistent component of the pathophysiology of HD.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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