Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease
Identifieur interne : 003848 ( Main/Exploration ); précédent : 003847; suivant : 003849Mitochondrial 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.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Histologie, Homme, Phosphore.
English descriptors
- KwdEn :
- 31‐phosphorus magnetic resonance spectroscopy, Adenosine Triphosphate (metabolism), Adult, Asymptomatic, Carrier, Case-Control Studies, Energy Metabolism (physiology), Energy metabolism, Exercise (physiology), Female, Histology, Human, Humans, Huntington Disease (diagnosis), Huntington Disease (genetics), Huntington Disease (physiopathology), Huntington disease, Huntington's disease, Immunohistochemistry (methods), Magnetic Resonance Spectroscopy (methods), Male, Middle Aged, Mitochondria, Mitochondrial Diseases (diagnosis), Mitochondrial Diseases (etiology), Mitochondrial Diseases (genetics), Muscle, Skeletal (physiopathology), Mutation, NMR spectrometry, Nerve Tissue Proteins (genetics), Nerve Tissue Proteins (metabolism), Nervous system diseases, Nuclear Proteins (genetics), Nuclear Proteins (metabolism), Phosphocreatine (metabolism), Phosphorus, 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
Affiliations:
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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 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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. 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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>Asymptomatic</term><term>Carrier</term><term>Case-Control Studies</term><term>Energy Metabolism (physiology)</term><term>Energy metabolism</term><term>Exercise (physiology)</term><term>Female</term><term>Histology</term><term>Human</term><term>Humans</term><term>Huntington Disease (diagnosis)</term><term>Huntington Disease (genetics)</term><term>Huntington Disease (physiopathology)</term><term>Huntington disease</term><term>Huntington's disease</term><term>Immunohistochemistry (methods)</term><term>Magnetic Resonance Spectroscopy (methods)</term><term>Male</term><term>Middle Aged</term><term>Mitochondria</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>NMR spectrometry</term><term>Nerve Tissue Proteins (genetics)</term><term>Nerve Tissue Proteins (metabolism)</term><term>Nervous system diseases</term><term>Nuclear Proteins (genetics)</term><term>Nuclear Proteins (metabolism)</term><term>Phosphocreatine (metabolism)</term><term>Phosphorus</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><keywords scheme="Pascal" xml:lang="fr"><term>Asymptomatique</term><term>Chorée Huntington</term><term>Histologie</term><term>Homme</term><term>Mitochondrie</term><term>Mutation</term><term>Métabolisme énergétique</term><term>Phosphore</term><term>Porteur</term><term>Spectrométrie RMN</term><term>Système nerveux pathologie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Histologie</term><term>Homme</term><term>Phosphore</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><affiliations><list><country><li>Allemagne</li></country><region><li>Bade-Wurtemberg</li><li>District de Tübingen</li></region><settlement><li>Tübingen</li><li>Ulm</li></settlement><orgName><li>Université d'Ulm</li></orgName></list><tree><country name="Allemagne"><noRegion><name sortKey="Saft, Carsten" sort="Saft, Carsten" uniqKey="Saft C" first="Carsten" last="Saft">Carsten Saft</name></noRegion><name sortKey="Andrich, Jurgen" sort="Andrich, Jurgen" uniqKey="Andrich J" first="Jürgen" last="Andrich">Jürgen Andrich</name><name sortKey="Kraus, Peter H" sort="Kraus, Peter H" uniqKey="Kraus P" first="Peter H." last="Kraus">Peter H. Kraus</name><name sortKey="Landwehrmeyer, Bernhard" sort="Landwehrmeyer, Bernhard" uniqKey="Landwehrmeyer B" first="Bernhard" last="Landwehrmeyer">Bernhard Landwehrmeyer</name><name sortKey="Lindenberg, Katrin" sort="Lindenberg, Katrin" uniqKey="Lindenberg K" first="Katrin" last="Lindenberg">Katrin Lindenberg</name><name sortKey="Muller, Klaus" sort="Muller, Klaus" uniqKey="Muller K" first="Klaus" last="Müller">Klaus Müller</name><name sortKey="Przuntek, Horst" sort="Przuntek, Horst" uniqKey="Przuntek H" first="Horst" last="Przuntek">Horst Przuntek</name><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><name sortKey="Vorgerd, Matthias" sort="Vorgerd, Matthias" uniqKey="Vorgerd M" first="Matthias" last="Vorgerd">Matthias Vorgerd</name><name sortKey="Zange, Jochen" sort="Zange, Jochen" uniqKey="Zange J" first="Jochen" last="Zange">Jochen Zange</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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