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Human Molecular Genetics Advance Access originally published online on March 16, 2005
Human Molecular Genetics 2005 14(9):1127-1137; doi:10.1093/hmg/ddi125
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© The Author 2005. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org

Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency

Iris Oezen1,{dagger}, Walter Rossmanith2,{dagger}, Sonja Forss-Petter1, Stephan Kemp3, Till Voigtländer4, Karin Moser-Thier2, Ronald J. Wanders3, Reginald E. Bittner2 and Johannes Berger1,*

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

* To whom correspondence should be addressed at: Center for Brain Research, Medical University Vienna, Spitalgasse 4, A-1090 Vienna, Austria. Tel: +43 1427762812; Fax: +43 142779628; Email: johannes.berger{at}meduniwien.ac.at

Received February 8, 2005; Accepted March 8, 2005

X-linked adrenoleukodystrophy (X-ALD, OMIM 300100) is a severe inherited neurodegenerative disease, associated with the 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 localization of mitochondria in muscle of both groups. Similar to the results obtained in skeletal muscle, the mitochondrial enzyme activities in brain homogenates of Abcd1-deficient and wild-type animals also did not differ. Finally, studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts of X-ALD patients and controls revealed no abnormalities. Thus, we conclude that the accumulation of VLCFA per se does not cause mitochondrial abnormalities and vice versa—mitochondrial abnormalities are not responsible for the accumulation of VLCFA in X-ALD mice.

{dagger} The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.


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