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Neurochemical Research

, Volume 29, Issue 3, pp 589–600 | Cite as

Mitochondrial Disease: Mutations and Mechanisms

  • Matthew McKenzie
  • Danae Liolitsa
  • Michael G. Hanna
Article

Abstract

The mitochondrial diseases encompass a diverse group of disorders that can exhibit various combinations of clinical features. Defects in mitochondrial DNA (mtDNA) have been associated with these diseases, and studies have been able to assign biochemical defects. Deficiencies in mitochondrial oxidative phosphorylation appear to be the main pathogenic factors, although recent studies suggest that other mechanisms are involved. Reactive oxygen species (ROS) generation has been implicated in a wide variety of neurodegenerative diseases, and mitochondrial ROS generation may be an important factor in mitochondrial disease pathogenesis. Altered apoptotic signaling as a consequence of defective mitochondrial function has also been observed in both in vitro and in vivo disease models. Our current understanding of the contribution of these various mechanisms to mitochondrial disease pathophysiology will be discussed.

Mitochondria DNA mutation reactive oxygen species apoptosis 

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Copyright information

© Plenum Publishing Corporation 2004

Authors and Affiliations

  • Matthew McKenzie
    • 1
  • Danae Liolitsa
    • 2
  • Michael G. Hanna
    • 2
    • 3
  1. 1.Department of PhysiologyUniversity College LondonLondonUnited Kingdom
  2. 2.Department of Molecular PathogenesisInstitute of NeurologyLondonUnited Kingdom
  3. 3.Centre for Neuromuscular DiseaseNational Hospital for Neurology and Institute of NeurologyLondonUnited Kingdom

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