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Orbicularis oculi: morphological changes mimicking mitochondrial cytopathy in a series of control normal muscles.

AbstractINTRODUCTION:
  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.
AuthorsPenelope McKelvie, Khami Satchi, Alan A McNab, Paul Kennedy
JournalClinical & experimental ophthalmology (Clin Exp Ophthalmol) Vol. 40 Issue 5 Pg. 497-502 (Jul 2012) ISSN: 1442-9071 [Electronic] Australia
PMID22044520 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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
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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