Complex I defect in muscle from patients with Huntington's disease

We found a variable defect of complex I of the mitochondrial respiratory chain, ranging in severity from 25% to 63% of control values, in muscle of patients with Huntington's disease (HD). The most severe defect was observed in the patient with the greatest expansion of CAG triplets. Muscle mor...

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Bibliographic Details
Published inAnnals of neurology Vol. 43; no. 3; p. 397
Main Authors Arenas, J, Campos, Y, Ribacoba, R, Martín, M A, Rubio, J C, Ablanedo, P, Cabello, A
Format Journal Article
LanguageEnglish
Published United States 01.03.1998
Subjects
Adolescent
Adult
Base Sequence
DNA, Mitochondrial - genetics
Electron Transport Complex I
Gene Deletion
Humans
Huntington Disease - metabolism
Huntington Disease - pathology
Male
Middle Aged
Muscles - metabolism
NAD(P)H Dehydrogenase (Quinone) - genetics
NADH, NADPH Oxidoreductases - metabolism
Repetitive Sequences, Nucleic Acid
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Summary:We found a variable defect of complex I of the mitochondrial respiratory chain, ranging in severity from 25% to 63% of control values, in muscle of patients with Huntington's disease (HD). The most severe defect was observed in the patient with the greatest expansion of CAG triplets. Muscle morphology showed myopathic changes such as moth-eaten fibers, angulated fibers, increased subsarcolemmal oxidative activities, or an increased number of enlarged mitochondria with abnormal cristae. Multiple mitochondrial DNA deletions were found by polymerase chain reaction (PCR) analysis in muscle of the patient with the most severe defect of complex I. Our data further support the involvement of energetic defects and oxidative damage in muscle of patients with HD.
ISSN:0364-5134
DOI:10.1002/ana.410430321