Histopathological Diagnosis of Mitochondrial Myopathies – Indications and the Utility of Muscle Biopsy

Authors: O. Souček 1 ;  P. Ješina 2;  J. Zeman 2;  M. Elleder 3;  H. Hůlková 3;  Z. Lukáš 1
Authors‘ workplace: Ústav patologie LF MU a FN Brno 1;  Klinika dětského a dorostového lékařství 1. LF UK a VFN v Praze 2;  Ústav dědičných a metabolických poruch 1. LF UK a VFN v Praze 3
Published in: Cesk Slov Neurol N 2011; 74/107(4): 428-436
Category: Review Article


Mitochondrial myopathies make up a complex heterogenous group of diseases characte­rized by mitochondrial dysfunction. Mitochondrial disorders are caused biochemically, by impairment of the oxidative phosphorylation system formed by five multi-subunit polypeptide complexes (I-V) located within the inner mitochondrial membrane, along with two electron carriers (Q10 and cytochrome c). The electron carriers and complex II are nuclear DNA-encoded, while the remaining complexes are encoded both by nuclear and mitochondrial DNA. Classification of mitochondrial disorders is rendered complicated by clinical and genetic hete­rogeneity. Morphological examination is based on evaluation of the general pattern of histopathological changes in a muscle biopsy, of quantitative and qualitative alteration of the mitochondria and, last but not least, on assessment of the presence/absence of ragged red fibres in relation to the cytochrome c oxidase and succinyldehydrogenase reactivity. Combined with immunohistochemistry and in situ hybridisation, this may allow assessment of the type of heredity and/or point to a disorder in a certain complex of the oxidative phosphorylation chain.

Key words:
mitochondrial myopathy – muscle biopsy – diagnosis – classification


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Paediatric neurology Neurosurgery Neurology

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Czech and Slovak Neurology and Neurosurgery

2011 Issue 4

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