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Energy metabolism defects in Huntington's disease and effects of coenzyme Q 10
Author(s) -
Koroshetz Walter J.,
Jenkins Bruce G.,
Rosen Bruce R.,
Beal M. Flint
Publication year - 1997
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410410206
Subject(s) - phosphocreatine , coenzyme q10 , high energy phosphate , medicine , endocrinology , huntington's disease , metabolism , cofactor , chemistry , disease , energy metabolism , biochemistry , enzyme
We investigated whether the Huntington's desease (HD) gene mutation may produce either primary or secondary effects on energy metalbolism. 31 P magnetic resonance spectroscopy demonstrated a significant decrease in the phosphocreatine to inorganic phosphate ratio in resting muscle of 8 patients as compared with 8 control subjects. The cerebrospinal fluid lactate‐pyruvate ratio was significantly increased in 15 patients as compared with 13 control subjects. Lactate concentrations assessed using 1 H magnetic resonance spectroscopy are increased in Huntington's disease cerebral cortex. Treatment with coenzyme Q 10 , an essential cofactor of the electron transport chain, resulted in significant decreases in cortical lactate concentrations in 18 patients, which reversed following withdrawal of therapy. These findings provide evidence for a generalized energy defect in Huntington's disease, and suggest a possible therapy.