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Current controversies in Niemann–Pick C1 disease: steroids or gangliosides; neurons or neurons and glia

  • Human Genetics • Review
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Abstract

There has been a recent explosion in research on Niemann–Pick type C disease. Much of the work has used mouse models or cells in culture to elucidate the pathophysiological mechanisms resulting in the phenotype of the disease. This work has generated several contrasting views on the mechanism, which are labeled ‘controversies’ here. In this review, two of these controversies are explored. The first concerns which stored materials are causative in the disease: cholesterol, gangliosides and sphingolipids, or something else? The second concerns which cells in the body require Npc1 in order to function properly: somatic cells, neurons only, or neurons and glia? For the first controversy, a clear answer has emerged. More research will be needed in order to definitively solve the second controversy.

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Acknowledgments

The author thanks Maria Teresa Fiorenza for the thoughtful comments, Ivan Borbon for the slight modifications of Fig. 2, and Nabeel Affara and members of his laboratory for their hospitality while this paper was written. Work reported from the author’s laboratory was supported by NIH 5RO1 EB000343-95 (PI, T. Trouard).

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  1. Department of Pediatrics, University of Arizona, Tucson, AZ, 85724-5073, USA

    Robert P. Erickson

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Erickson, R.P. Current controversies in Niemann–Pick C1 disease: steroids or gangliosides; neurons or neurons and glia. J Appl Genetics 54, 215–224 (2013). https://doi.org/10.1007/s13353-012-0130-0

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  • DOI: https://doi.org/10.1007/s13353-012-0130-0

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