Progressive myopathy with a combined respiratory chain defect including Complex II

Progressive myopathy with a combined respiratory chain defect including Complex II

Author Rodrigues, Andresa De Santi Autor UNIFESP Google Scholar
Kiyomoto, Beatriz Hitomi Autor UNIFESP Google Scholar
Oliveira, Acary Souza Bulle Autor UNIFESP Google Scholar
Gabbai, Alberto Alain Autor UNIFESP Google Scholar
Schmidt, Beny Autor UNIFESP Google Scholar
Tengan, Celia Harumi Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract Biochemical defects in the respiratory chain are mostly associated with deficiencies in Complexes I, III and IV, caused by nuclear or mitochondrial DNA mutations. Combined defects including Complex II have been reported very rarely and have muscular symptoms as the main manifestation, including muscle weakness, exercise intolerance and myoglobinuria. We report a patient with a fatal progressive myopathy and muscle biopsy showing diffuse reduction in succinate dehydrogenase activity, ragged red fibers and intense lipid accumulation. Cytochrome c oxidase (COX) histochemistry demonstrated 30% of fibers with increased subsarcolemmal staining while 27% were COX negative. Western blotting analysis showed reduction in the expression of the 39 kDa subunit of Complex I, subunit II of Complex IV and the 70 kDa subunit of Complex II. Our findings suggest that the patient had a complex pattern of mitochondrial dysfunction affecting multiple respiratory chain complexes (I, II and IV) and fatty acid metabolism. This report adds a new histological pattern associated to combined deficiencies of respiratory chain with involvement of Complex II and shows that this disease may be fatal with a rapid progression. (c) 2007 Elsevier B.V. All rights reserved.
Keywords mitochondria
succinate dehydrogenase
mitochondrial myopathies
respiratory chain
lipid metabolism
Language English
Date 2008-01-15
Published in Journal of the Neurological Sciences. Amsterdam: Elsevier B.V., v. 264, n. 1-2, p. 182-186, 2008.
ISSN 0022-510X (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 182-186
Access rights Closed access
Type Article
Web of Science ID WOS:000252686200033

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