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Neurodegeneration

Trouble in the cell's powerhouse

Nature volume 483, pages 418–419 (2012)Cite this article

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Studies of rare hereditary disorders are intended to find treatments, but they can also bring other discoveries. One such study links the dysfunction of a protein to that of the cell's energy producers, the mitochondria.

In Greek, 'ataxic' (ατάξις) means 'disordered'. In neurological diseases known as ataxias, the lack of order is mainly one of movement: patients cannot coordinate voluntary movements because of the loss of certain neural circuits, making it difficult for them to walk, reach for objects and speak. Increasingly, researchers are finding1,2 that the underlying cause of some hereditary ataxias is another sort of disorder — that of mitochondria, the intracellular organelles that act as the cell's powerhouses. However, we know very little about the mechanisms that trigger certain other hereditary ataxias, such as the condition known as autosomal recessive spastic ataxia of Charlevoix–Saguenay, or ARSACS. The disease is caused by mutations in the SACS gene3, but the link between the mutations and the neuronal loss has been unclear. Writing in Proceedings of the National Academy of Sciences, Girard et al.4 find that mitochondrial dysfunction is just such a link, and in the process provide clues about the cellular role of the SACS-encoded protein, sacsinFootnote 1.

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Figure 1: Out-of-shape organelles lead to disease.

Notes

  1. *This News & Views article was published online on 7 March 2012.

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  1. Derek P. Narendra and Richard J. Youle are in the Biochemistry Section, Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.

    Derek P. Narendra & Richard J. Youle

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  1. Derek P. Narendra
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  2. Richard J. Youle
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Correspondence to Richard J. Youle.

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Narendra, D., Youle, R. Trouble in the cell's powerhouse. Nature 483, 418–419 (2012). https://doi.org/10.1038/nature10952

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