Article
Mitochondrial degeneration in familial ATP synthetase defect
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Published: | September 11, 2012 |
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Outline
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Mitochondrial ATP synthetase (complex V) constitutes the final pumping step for protons during ATP generation. Herein, we investigated several muscles from genetically confirmed patients with ATP synthetase defects. Lacking common alterations such as ragged-red fibers and COX-deficient fibers in histological investigations, electron microscopy revealed myofibers with frequent giant mitochondria, severe cristae aggregation, globular fatty inclusions, segregation of abnormal mitochondria as well as “free-floating” mitochondria detached from myofibers. In summary, we herein describe an uncommon ultrastructural mitochondrial degeneration pattern in familial ATPase synthetase defect strongly differing from other common alterations.