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Oezen 2005 Hum Mol Genet
Has abstract X-linked adrenoleukodystrophy (X-ALD, OMIM
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 ''Abcd''1-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.
r the accumulation of VLCFA in X-ALD mice.  +
Has info [ PMID: 15772093 Open Access]  +
Has title Oezen I, Rossmanith W, Forss-Petter S, Kem
Oezen I, Rossmanith W, Forss-Petter S, Kemp S, Voigtlander T, Moser-Thier K, Wanders RJA, Bittner RE, Berger J (2005) Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency. Hum Mol Genet 14:1127-37.
tein deficiency. Hum Mol Genet 14:1127-37.  +
Instrument and method Oxygraph-2k  +
Mammal and model Human  + , Mouse  +
Preparation Permeabilized cells  + , Permeabilized tissue  + , Isolated mitochondria  +
Respiration and regulation Fatty acid  +
Stress Mitochondrial disease  +
Tissue and cell Skeletal muscle  + , Nervous system  + , Fibroblast  +
Was published by MiPNetLab AT Vienna Bittner RE +
Was published in journal Hum Mol Genet +
Was published in year 2005  +
Was written by Oezen I + , Rossmanith W + , Forss-Petter S + , Kemp S + , Voigtlander T + , Moser-Thier K + , Wanders RJA + , Bittner RE + , Berger J +
Categories Publications
Modification date
"Modification date" is a predefined property that corresponds to the date of the last modification of a subject and is provided by Semantic MediaWiki.
11:32:56, 24 June 2019  +
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