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57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN)

German Society for Neuropathology and Neuroanatomy

12. - 15.09.2012, Erlangen

57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN)

Mitochondrial degeneration in familial ATP synthetase defect

Meeting Abstract

  • Stefan Vlaho - Department of Neuropediatrics, Goethe University, Frankfurt, Germany
  • Klaus Müller - Goethe University Frankfurt, Edinger Institute (Neurological Institute), Frankfurt, Germany
  • Mariel Selter - Department of Neuropediatrics, Goethe University, Frankfurt, Germany
  • Ulrich Drott - Goethe University Frankfurt, Edinger Institute (Neurological Institute), Frankfurt, Germany
  • Patrick N. Harter - Goethe University Frankfurt, Edinger Institute (Neurological Institute), Frankfurt, Germany
  • Matthias Kieslich - Department of Neuropediatrics, Goethe University, Frankfurt, Germany
  • presenting/speaker Michel Mittelbronn - Goethe University Frankfurt, Edinger Institute (Neurological Institute), Frankfurt, Germany

Deutsche Gesellschaft für Neuropathologie und Neuroanatomie. 57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN). Erlangen, 12.-15.09.2012. Düsseldorf: German Medical Science GMS Publishing House; 2012. Doc12dgnnPP1.10

DOI: 10.3205/12dgnn028, URN: urn:nbn:de:0183-12dgnn0284

Published: September 11, 2012

© 2012 Vlaho et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en). You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.


Outline

Text

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.