Abstract | INTRODUCTION: Orbicularis oculi (OO) muscle has recently proposed as a suitable muscle for biopsy to diagnose mitochondrial cyopathy: METHODS: Enzyme histochemical and immunohistochemical studies were performed on OO muscle obtained from 18 patients aged 37-87 years (median 64 years), 6 males, 12 females, who were undergoing routine upper blepharoplasty surgery. RESULTS: We confirmed the marked type II fibre (fast myosin heavy chain) predominance (89%) but also noted a different proportion and distribution of mitochondria in these fibres with occasional pseudo-'ragged-red' fibres with prominent subsarcolemmal and cytoplasmic aggregation of mitochondria. Cytochrome oxidase-negative fibres and true 'ragged-red' fibres were found at all ages over 40 years at levels that approach those used for diagnosis of mitochondrial cytopathy in peripheral or limb skeletal muscles. CONCLUSION: We would therefore urge caution in the use of OO as muscle biopsy for diagnosis of mitochondrial cytopathy and advise concomitant biopsy of limb skeletal muscle and/or supplementary genetic studies.
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Authors | Penelope McKelvie, Khami Satchi, Alan A McNab, Paul Kennedy |
Journal | Clinical & experimental ophthalmology
(Clin Exp Ophthalmol)
Vol. 40
Issue 5
Pg. 497-502
(Jul 2012)
ISSN: 1442-9071 [Electronic] Australia |
PMID | 22044520
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2011 The Authors. Clinical and Experimental Ophthalmology © 2011 Royal Australian and New Zealand College of Ophthalmologists. |
Chemical References |
- Protein Isoforms
- Electron Transport Complex IV
- Myosin Heavy Chains
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Topics |
- Adult
- Aged
- Aged, 80 and over
- Biopsy
- Blepharoplasty
- Electron Transport Complex IV
(metabolism)
- Female
- Humans
- Immunoenzyme Techniques
- Male
- Middle Aged
- Mitochondria, Muscle
(enzymology, pathology)
- Mitochondrial Myopathies
(diagnosis, enzymology)
- Muscle Fibers, Fast-Twitch
(metabolism, pathology)
- Muscle, Skeletal
(pathology)
- Myosin Heavy Chains
(metabolism)
- Oculomotor Muscles
(enzymology, pathology)
- Protein Isoforms
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