Autophagy in Gaucher disease due to saposin C deficiency.
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.
Tatti
Massimo
M
Department of Haematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Roma, Italy.
Motta
Marialetizia
M
Salvioli
Rosa
R
D001343:Autophagy; D005347:Fibroblasts / Q000378:metabolism / Q000473:pathology; D005776:Gaucher Disease / Q000235:genetics / Q000473:pathology*; D006801:Humans; D009154:Mutation / Q000235:genetics; D049231:Saposins / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism
D049231:Saposins