Study of lysosomal storage disease-intracellular signaling and apoptosis

点击翻译按钮获取中文摘要

Farber disease is a rare inherited metaboric disorder, in which cardinal symptom is ceramide enriched subcutaneous nodules due to a deficiency of lysosomal acid ceramidase. I examined expressed genes in nodules from a patient and macrophage like cell lines induced by cell permeable ceramide, to elucidate the roll of ceramide in cell signaling mechanism. From these results, I deduced that ceramide accumulation induced macrophage infiltration in nodules through the up-regulation of the MCP-1 (macrophage chemoattractant protein 1) gene expression and also induced TGF-β gene expression. These results partly explain the pathogenesis of nodule formation and macrophage infiltration.