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Neuronal Forms of Gaucher Disease

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Sphingolipids in Disease

Part of the book series: Handbook of Experimental Pharmacology ((HEP,volume 216))

Abstract

Gaucher disease is an inherited metabolic disease caused by the defective activity of the lysosomal enzyme, glucosylceramidase (GlcCerase), which is responsible for the last step in the degradation of complex glycosphingolipids. As a result, glucosylceramide (GlcCer) accumulates intracellularly. Little is known about the mechanisms by which GlcCer accumulation leads to Gaucher disease, particularly for the types of the disease in which severe neuropathology occurs. We now summarize recent advances in this area and in particular focus in the biochemical and cellular pathways that may cause neuronal defects. Most recent work has taken advantage of newly available mouse models, which mimic to a large extent human disease progression. Finally, we discuss observations of a genetic link between Gaucher disease and Parkinson’s disease and discuss how this link has stimulated research into the basic biology of the previously underappreciated glycosphingolipid, GlcCer.

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Acknowledgments

Work in the Futerman laboratory on nGD has been generously supported for the past decade by the Children’s Gaucher Research Fund.

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  1. Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, 76100, Israel

    Einat B. Vitner & Anthony H. Futerman

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  1. Einat B. Vitner
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  2. Anthony H. Futerman
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Correspondence to Anthony H. Futerman .

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  1. , Department of Molecular Biology, University of Duisburg-Essen, HufelandstraĂźe 55, Essen, 45122, Germany

    Erich Gulbins

  2. Division of Pulmonary, Allergy, Critical, Department of Medicine, Indiana University School of Medicine, W. Walnut Street 980, Indianapolis, 46202, Indiana, USA

    Irina Petrache

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Vitner, E.B., Futerman, A.H. (2013). Neuronal Forms of Gaucher Disease. In: Gulbins, E., Petrache, I. (eds) Sphingolipids in Disease. Handbook of Experimental Pharmacology, vol 216. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1511-4_20

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