Understanding Atlastin mutations

Zebrafish study sheds light

Zebrafish study induces, and successfully reverses mobility and nerve defects in well-defined cell pathway.

To better understand hereditary spastic paraplegia (HSP), we characterized the function of atlastin, a protein that is frequently involved in juvenile forms of HSP, by analyzing loss- and gain-of-function phenotypes in the developing zebrafish. We found that knockdown of the gene for atlastin (atl1) (SPG3A) caused a severe decrease in larval mobility that was preceded by abnormal architecture of spinal motor axons and was associated with a substantial upregulation of the bone morphogenetic protein (BMP) signaling pathway.

Overexpression analyses confirmed that atlastin inhibits BMP signaling. In primary cultures of zebrafish spinal neurons, Atlastin partially colocalized with type I BMP receptors in late endosomes distributed along neurites, which suggests that atlastin may regulate BMP receptor trafficking.

Finally, genetic or pharmacological inhibition of BMP signaling was sufficient to rescue the loss of mobility and spinal motor axon defects of atl1 morphants, emphasizing the importance of fine-tuning the balance of BMP signaling for vertebrate motor axon architecture and stability.

SOURCE:  Nat Neurosci. 2010 Nov;13(11):1380-7. Epub 2010 Oct 10   PMID:  20935645 (PubMed – in process)

Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway.

Fassier CHutt JAScholpp SLumsden AGiros BNothias FSchneider-Maunoury SHouart CHazan J.

CNRS UMR 7224, Physiopathologie des Maladies du Système Nerveux Central, Paris, France.

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