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PMID: 15038606 Published · ppublish English Journal Article Review

Mitochondrial disease: mutations and mechanisms.

Neurochemical research ·Vol. 29 ·No. 3 ·2004-03-00 ·Pages 589-600

McKenzie M, Liolitsa D, Hanna MG

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.

MeSH Terms
DNA, Mitochondrial/genetics Humans MELAS Syndrome/genetics Mitochondria/genetics Mitochondrial Diseases/genetics Mitochondrial Myopathies/genetics Mutation/genetics Oxidative Phosphorylation Oxidative Stress/physiology
Chemicals
DNA, Mitochondrial
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
McKenzie Matthew
Department of Physiology, University College London, Gower Street, London, United Kingdom WC1E 6BT. m.mckenzie@ucl.ac.uk
Liolitsa Danae
Hanna Michael G
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Article Info
Journal
Neurochemical research
Abbr.
Neurochem Res
ISSN
0364-3190
DOI
10.1023/b:nere.0000014829.42364.dd
Email
m.mckenzie@ucl.ac.uk
Published
2004-03-00
Pages
589-600
Language
English
Region
United States
NLM ID
7613461
Subset
IM
External Links
PubMed source DOI: 10.1023/b:nere.0000014829.42364.dd View journal details
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