Modest loss of peripheral axons and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1
Identifieur interne : 000217 ( France/Extraction ); précédent : 000216; suivant : 000218Modest loss of peripheral axons and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1
Auteurs : Florence Dequen [Canada] ; Pascale Bomont [États-Unis, France] ; Geneviève Gowing [Canada] ; Don W. Cleveland [États-Unis] ; Jean-Pierre Julien [Canada]Source :
- Journal of neurochemistry [ 0022-3042 ] ; 2008.
Abstract
Mutations in gigaxonin are responsible for Giant Axonal Neuropathy (GAN), a progressive neurodegenerative disorder associated with abnormal accumulations of Intermediate Filaments (IFs). Gigaxonin is the substrate-specific adaptor for a new Cul3-E3-ubiquitin ligase family that promotes the proteasome dependent degradation of its partners MAP1B, MAP8 and TBCB. Here, we report the generation of a mouse model with targeted deletion of
Url:
DOI: 10.1111/j.1471-4159.2008.05601.x
PubMed: 18680552
PubMed Central: 3657508
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PMC:3657508Le document en format XML
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<series><title level="j">Journal of neurochemistry</title>
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<front><div type="abstract" xml:lang="en"><p id="P1">Mutations in gigaxonin are responsible for Giant Axonal Neuropathy (GAN), a progressive neurodegenerative disorder associated with abnormal accumulations of Intermediate Filaments (IFs). Gigaxonin is the substrate-specific adaptor for a new Cul3-E3-ubiquitin ligase family that promotes the proteasome dependent degradation of its partners MAP1B, MAP8 and TBCB. Here, we report the generation of a mouse model with targeted deletion of <italic>Gan</italic>
exon 1 (<italic>Gan<sup>Δexon1;Δexon1</sup>
</italic>
). Analyses of the <italic>Gan<sup>Δexon1;Δexon1</sup>
</italic>
mice revealed increased levels of various IFs proteins in nervous system and the presence of IFs inclusion bodies in the brain. Despite deficiency of full length gigaxonin, the <italic>Gan<sup>Δexon1;Δexon1</sup>
</italic>
mice do not develop overt neurological phenotypes and giant axons reminiscent of the human GAN disease. We propose that the existence of a short gigaxonin isoform expressed in the spinal cord could underlie the mitigation of GAN-phenotypes in <italic>Gan<sup>Δexon1;Δexon1</sup>
</italic>
mice. Nonetheless, the <italic>Gan<sup>Δexon1;Δexon1</sup>
</italic>
mice exhibited modest increase in axon calibers and 27% axonal loss in the L5 ventral roots. This new mouse model should provide a useful tool for testing potential therapeutic approaches for GAN disease.</p>
</div>
</front>
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<country name="États-Unis"><noRegion><name sortKey="Bomont, Pascale" sort="Bomont, Pascale" uniqKey="Bomont P" first="Pascale" last="Bomont">Pascale Bomont</name>
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<name sortKey="Cleveland, Don W" sort="Cleveland, Don W" uniqKey="Cleveland D" first="Don W." last="Cleveland">Don W. Cleveland</name>
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