A common cytokine profile in Fabry, Gaucher and Hunter diseases

ROZENFELD P; DE FRANCESCO N; FOSSATI C

Philadelphia, USA

Congreso; 58th. Annual Meeting of the American Society of Human Genetics; 2008

American Society of Human Genetics

The pathophysiology of lysosomal storage diseases (LSD) 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 diseases. Studies in a spectrum of lysosomal storage disorders showed the upregulation of proinflammatory cytokines. To our knowledge, no analysis of cytokine production by real time PCR in immune cells from Fabry, Gaucher and Hunter human patients has been reported. The aim of this work is to study the cytokine expression in these group of LSD.Blood samples from patients with Fabry (n=24), Gaucher (n= 8) Hunter (n= 8) and 20 normal controls were obtained. Mononuclear cells were separated by Ficoll and cytokine RNA expression by qPCR was determined.A significantly higher expression level of mRNA of IL-1b  (p=0.02) and TNFa  (p=0.03) was observed in mononuclear cells from Fabry patients as compared to normal controls. An overexpression of IL-6 and TNFa was detected in Gaucher and Hunter cells in comparison to control individuals. No signs of induction of the genes for IL-4 or IFNg was observed in any of these disorders.In conclusion, the cytokine profile overexpressed in Fabry, Gaucher and Hunter immune cells is characteristic of an innate immune response and inflammation, however no signs of induction of an adaptive immune response were detected.