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Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease

Saft, Carsten and Zange, Jochen and Andrich, Jürgen and Müller, Klaus and Lindenberg, Katrin and Landwehrmeyer, Bernhard and Vorgerd, Matthias and Kraus, Peter H. and Przuntek, Horst and Schöls, Ludger (2005) Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease. Movement Disorders, 20 (6), pp. 674-679. Wiley InterScience.

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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 <sup>31</sup>P 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.

Document Type:Article
Title:Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease
AuthorsInstitution or Email of Authors
Saft, CarstenUniversität Bochum
Andrich, JürgenUniversität Bochum
Lindenberg, KatrinUniversität Ulm
Landwehrmeyer, BernhardUniversität Ulm
Vorgerd, MatthiasUniversität Bochum
Kraus, Peter H.Universität Bochum
Przuntek, HorstUniversität Bochum
Schöls, LudgerUniversität Tübingen
Journal or Publication Title:Movement Disorders
Refereed publication:Yes
In ISI Web of Science:Yes
Page Range:pp. 674-679
Publisher:Wiley InterScience
Keywords:Huntington’s disease, mitochondrial impairment, energy metabolism, 31-phosphorus magnetic resonance spectroscopy, muscle histology
HGF - Research field:Aeronautics, Space and Transport (old)
HGF - Program:Space (old)
HGF - Program Themes:W FR - Forschung unter Weltraumbedingungen (old)
DLR - Research area:Space
DLR - Program:W FR - Forschung unter Weltraumbedingungen
DLR - Research theme (Project):W -- no assignement (old)
Location: Köln-Porz
Institutes and Institutions:Institute of Aerospace Medicine > Space Physiology
Deposited By: Dr.rer.nat. Jochen Zange
Deposited On:10 Jan 2006
Last Modified:27 Apr 2009 04:52

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