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Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease
Author(s) -
Saft Carsten,
Zange Jochen,
Andrich Jürgen,
Müller Klaus,
Lindenberg Katrin,
Landwehrmeyer Bernhard,
Vorgerd Matthias,
Kraus Peter H.,
Przuntek Horst,
Schöls Ludger
Publication year - 2005
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20373
Subject(s) - phosphocreatine , huntington's disease , asymptomatic , neurodegeneration , asymptomatic carrier , mutation , degenerative disease , medicine , pathophysiology , mitochondrial disease , mitochondrion , mitochondrial dna , biology , endocrinology , disease , pathology , genetics , energy metabolism , gene
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