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Autophagy in Gaucher disease due to saposin C deficiency
Massimo Tatti1, Marialetizia Motta, Rosa Salvioli
1Department of Haematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Roma, Italy.
Abstract:
Gaucher disease, due to a deficit of glucosylceramidase or, rarely, of its activator saposin C, is characterized by accumulation of glucosylceramide in the lysosomes of monocyte/macrophage lineage. In our study we demonstrate that saposin C deficiency due to mutations involving a cysteine residue results in increased autophagy. Autophagy was monitored by LC3 analysis and confirmed by electron microscopy; we observed a correlation among saposin C mutation, Gaucher phenotype and increased autophagy.
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