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Human Molecular Genetics Advance Access published online on March 16, 2005
Human Molecular Genetics, doi:10.1093/hmg/ddi125
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© The Author 2005. Published by Oxford University Press. All rights reserved

Article

Accumulation of Very Long-Chain Fatty Acids does not Affect Mitochondrial Function in Adrenoleukodystrophy Protein Deficiency

Iris Oezen 1, Walter Rossmanith 2, Sonja Forss-Petter 1, Stephan Kemp 3, Till Voigtländer 4, Karin Moser-Thier 2, Ronald Wanders 3, Reginald Bittner 2, and Johannes Berger 1*

1 Center for Brain Research, Medical University Vienna, A-1090 Vienna, Austria
2 Center for Anatomy and Cell Biology, Medical University Vienna, A-1090 Vienna, Austria
3 Laboratory for Genetic Metabolic Diseases, Academic Medical Centre, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
4 Institute of Clinical Neurology, Medical University Vienna, A-1090 Vienna

* To whom correspondence should be addressed.
Johannes Berger, E-mail: johannes.berger{at}meduniwien.ac.at


  Abstract

X-linked adrenoleukodystrophy (X-ALD, OMIM 300100) is a severe inherited neurodegenerative disease, associated with accumulation of very long-chain fatty acids (VLCFA). The recent unexpected observation that the accumulation of VLCFA in tissues of the Abcd1-deficient mouse model for X-ALD is not due to a deficiency in VLCFA degradation, led to the hypothesis that mitochondrial abnormalities might contribute to X-ALD pathology. Here we report that in spite of substantial accumulation of VLCFA in whole muscle homogenates, normal VLCFA levels were detected in mitochondria obtained by organellar fractionation. Polarographic analyses of the respiratory chain as well as enzymatic assays of isolated muscle mitochondria revealed no differences between X-ALD and control mice. Moreover, analysis by electron microscopy, revealed normal size, structure and localisation of mitochondria in muscle of both groups. Similar to the results obtained in skeletal muscle, also the mitochondrial enzyme activities in brain homogenates of Abcd1-deficient and wild-type animals did not differ. Finally, studies on mitochondrial oxidative phosphorylation in permeabilised human skin fibroblasts of X-ALD patients and controls revealed no abnormalities. Thus, we conclude that accumulation of VLCFA per se does not cause mitochondrial abnormalities and vice versa that mitochondrial abnormalities are not responsible for the accumulation of VLCFA in X-ALD mice.


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