MovDisordV3, Main, Curation, bibRecord, 002F57

Clinical correlates of mitochondrial function in Huntington's disease muscle

Identifieur interne : 002F57 ( Main/Curation ); précédent : 002F56; suivant : 002F58

Clinical correlates of mitochondrial function in Huntington's disease muscle

Auteurs : Christopher Turner [Royaume-Uni] ; J. Mark Cooper [Royaume-Uni] ; Anthony H. V. Schapira [Royaume-Uni]

Source :

Movement Disorders [ 0885-3185 ] ; 2007-09-15.

RBID : ISTEX:C6E7AD9F157008B616B814A5C5EE0CF0857634AB

Descripteurs français

Pascal (Inist)
- Chorée Huntington, Cytopathie mitochondriale, Mitochondrie, Système nerveux pathologie.

English descriptors

KwdEn :
- Adult, Aged, Case-Control Studies, Electron Transport Complex IV (metabolism), Female, Humans, Huntington Disease (genetics), Huntington Disease (pathology), Huntington Disease (physiopathology), Huntington disease, Huntington's disease, Male, Middle Aged, Mitochondria, Mitochondria (physiology), Mitochondrial disorder, Multienzyme Complexes (metabolism), Muscle, Skeletal (enzymology), Muscle, Skeletal (physiopathology), Muscle, Skeletal (ultrastructure), Nerve Tissue Proteins (genetics), Nervous system diseases, Nuclear Proteins (genetics), Spectrophotometry (methods), Succinate Dehydrogenase (metabolism), Trinucleotide Repeat Expansion (genetics), UHDRS, complex II/III, mitochondria, muscle.
MESH :
- chemical , genetics : Nerve Tissue Proteins, Nuclear Proteins.
- chemical , metabolism : Electron Transport Complex IV, Multienzyme Complexes, Succinate Dehydrogenase.
- enzymology : Muscle, Skeletal.
- genetics : Huntington Disease, Trinucleotide Repeat Expansion.
- methods : Spectrophotometry.
- pathology : Huntington Disease.
- physiology : Mitochondria.
- physiopathology : Huntington Disease, Muscle, Skeletal.
- ultrastructure : Muscle, Skeletal.
- Adult, Aged, Case-Control Studies, Female, Humans, Male, Middle Aged.

Abstract

Huntington's disease (HD) is caused by an abnormally expanded CAG repeat in the IT‐15 gene, which encodes a widely expressed protein called huntingtin. Abnormalities of mitochondrial respiratory chain function, specifically complex II/III, have been identified in HD striatum and defects of energy metabolism have been demonstrated in vivo in skeletal muscle in both symptomatic and presymptomatic HD patients. We have investigated respiratory chain function using histochemical and biochemical methods in HD skeletal muscle from 12 patients and compared these with 12 age and sex‐matched controls. The data from the HD patients were related to clinical parameters of HD including the Unified Huntington's Disease Rating Scale (UHDRS). There were positive correlations between CAG repeat years (a product of CAG repeat length and age) and both motor (P < 0.002) and cognitive (P < 0.01) scores of the UHDRS. There was no significant difference in the activities of complexes I to IV compared to age‐matched controls. However, there were significant correlations for individual HD complex II/III activities with disease duration (P = 0.017), repeat years (P = 0.032), and cognitive scores (P = 0.019). There was also evidence from ultrastructural studies that inclusion formation may occur in HD muscle. These results provide additional evidence that mutant huntingtin influences mitochondrial complex II/III function in non‐neuronal tissue (skeletal muscle) and suggest that muscle may be a potential marker of disease progression in HD. © 2007 Movement Disorder Society

Url:

https://api.istex.fr/document/C6E7AD9F157008B616B814A5C5EE0CF0857634AB/fulltext/pdf

DOI: 10.1002/mds.21540

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Le document en format XML

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<front><div type="abstract" xml:lang="en">: Huntington's disease (HD) is caused by an abnormally expanded CAG repeat in the IT-15 gene, which encodes a widely expressed protein called huntingtin. Abnormalities of mitochondrial respiratory chain function, specifically complex II/III, have been identified in HD striatum and defects of energy metabolism have been demonstrated in vivo in skeletal muscle in both symptomatic and presymptomatic HD patients. We have investigated respiratory chain function using histochemical and biochemical methods in HD skeletal muscle from 12 patients and compared these with 12 age and sex-matched controls. The data from the HD patients were related to clinical parameters of HD including the Unified Huntington's Disease Rating Scale (UHDRS). There were positive correlations between CAG repeat years (a product of CAG repeat length and age) and both motor (P < 0.002) and cognitive (P < 0.01) scores of the UHDRS. There was no significant difference in the activities of complexes I to IV compared to age-matched controls. However, there were significant correlations for individual HD complex II/III activities with disease duration (P = 0.017), repeat years (P = 0.032), and cognitive scores (P = 0.019). There was also evidence from ultrastructural studies that inclusion formation may occur in HD muscle. These results provide additional evidence that mutant huntingtin influences mitochondrial complex II/III function in non-neuronal tissue (skeletal muscle) and suggest that muscle may be a potential marker of disease progression in HD.</div>
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<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Clinical correlates of mitochondrial function in Huntington's disease muscle</title>
<author><name sortKey="Turner, Christopher" sort="Turner, Christopher" uniqKey="Turner C" first="Christopher" last="Turner">Christopher Turner</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
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</author>
<author><name sortKey="Cooper, J Mark" sort="Cooper, J Mark" uniqKey="Cooper J" first="J. Mark" last="Cooper">J. Mark Cooper</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
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</affiliation>
</author>
<author><name sortKey="Schapira, Anthony H V" sort="Schapira, Anthony H V" uniqKey="Schapira A" first="Anthony H. V." last="Schapira">Anthony H. V. Schapira</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
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<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Neurology, University College London, Queen Square, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
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<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="2007-09-15">2007-09-15</date>
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<biblScope unit="issue">12</biblScope>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Case-Control Studies</term>
<term>Electron Transport Complex IV (metabolism)</term>
<term>Female</term>
<term>Humans</term>
<term>Huntington Disease (genetics)</term>
<term>Huntington Disease (pathology)</term>
<term>Huntington Disease (physiopathology)</term>
<term>Huntington's disease</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mitochondria (physiology)</term>
<term>Multienzyme Complexes (metabolism)</term>
<term>Muscle, Skeletal (enzymology)</term>
<term>Muscle, Skeletal (physiopathology)</term>
<term>Muscle, Skeletal (ultrastructure)</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Nuclear Proteins (genetics)</term>
<term>Spectrophotometry (methods)</term>
<term>Succinate Dehydrogenase (metabolism)</term>
<term>Trinucleotide Repeat Expansion (genetics)</term>
<term>UHDRS</term>
<term>complex II/III</term>
<term>mitochondria</term>
<term>muscle</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>Electron Transport Complex IV</term>
<term>Multienzyme Complexes</term>
<term>Succinate Dehydrogenase</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Muscle, Skeletal</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term>
<term>Trinucleotide Repeat Expansion</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Spectrophotometry</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Huntington Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Mitochondria</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Huntington Disease</term>
<term>Muscle, Skeletal</term>
</keywords>
<keywords scheme="MESH" qualifier="ultrastructure" xml:lang="en"><term>Muscle, Skeletal</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Case-Control Studies</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
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<front><div type="abstract" xml:lang="en">Huntington's disease (HD) is caused by an abnormally expanded CAG repeat in the IT‐15 gene, which encodes a widely expressed protein called huntingtin. Abnormalities of mitochondrial respiratory chain function, specifically complex II/III, have been identified in HD striatum and defects of energy metabolism have been demonstrated in vivo in skeletal muscle in both symptomatic and presymptomatic HD patients. We have investigated respiratory chain function using histochemical and biochemical methods in HD skeletal muscle from 12 patients and compared these with 12 age and sex‐matched controls. The data from the HD patients were related to clinical parameters of HD including the Unified Huntington's Disease Rating Scale (UHDRS). There were positive correlations between CAG repeat years (a product of CAG repeat length and age) and both motor (P < 0.002) and cognitive (P < 0.01) scores of the UHDRS. There was no significant difference in the activities of complexes I to IV compared to age‐matched controls. However, there were significant correlations for individual HD complex II/III activities with disease duration (P = 0.017), repeat years (P = 0.032), and cognitive scores (P = 0.019). There was also evidence from ultrastructural studies that inclusion formation may occur in HD muscle. These results provide additional evidence that mutant huntingtin influences mitochondrial complex II/III function in non‐neuronal tissue (skeletal muscle) and suggest that muscle may be a potential marker of disease progression in HD. © 2007 Movement Disorder Society</div>
</front>
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Movement Disorders (revue)

Clinical correlates of mitochondrial function in Huntington's disease muscle

Clinical correlates of mitochondrial function in Huntington's disease muscle

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