Proinflammatory cytokine profile from mononuclear cells of fabry disease patients

ROZENFELD P; DE FRANCESCO N; KISINOVSKY I; FOSSATI C

Paris, Francia

Simposio; 8th. International Symposium on Lysosomal Storage Diseases; 2008

Shire HGT

The pathophysiology of Fabry disease is not well understood, and it is not solely explained by the burden of storage material. Other concurrent pathological mechanisms are elicited, giving together the phenotypic expression of the disease. Studies in a spectrum of lysosomal storage disorders showed the upregulation of proinflammatory cytokines. To our knowledge, no analysis of cytokine production in Fabry disease has been reported. The aim of this work is to study the cytokine profile in Fabry disease.Blood samples from 24 Fabry patients and 12 normal controls were obtained. Mononuclear cells were separated by Ficoll; cytokine RNA expression by qPCR and cytokine secretion in culture supernatant by capture Elisa were determined.A significantly higher expression level of mRNA of IL-1b  (p=0.02) and TNFa  (p=0.03) were observed in mononuclear cells from Fabry patients as compared to normal controls. However, no difference was observed in the expression of either IL-1a, IL-6, IL-12, IL-4 and IFNg. There was a tendency towards a higher secretion of IL-1b, IL-6 and TNF-a and lower production of IFNg in cultured supernatant mononuclear cells from Fabry patients, but the difference was not significant.In conclusion, the cytokine profile overexpressed in Fabry cells is characteristic of an innate immune response and inflammation, however no signs of induction of an adaptive immune response was detected.