Cytokine mRNA in Gaucher Disease,

ABSTRACT: Gaucher disease, the most common glycolipid storage disease, is caused by glucocerebrosidase deficiency, resulting in accumulation of glucocerebrosides within the macrophages of the reticuloendothelial system. The disease is characterized by great phenotypic heterogeneity, which can be explained only in part by the various mutations in the glucocerebrosidase gene, and by the amount of storage material in affected organs and tissues. Therefore, it has been postulated that some of the biochemical and clinical features may be related to the fact that “Gaucher” cells, as activated macrophages, express and release cytokines such as IL-1β, IL-8, IL-6 and TNF-α which play a role in different physiological processes. In the present study, cytokine mRNA expression was measured in monocytes isolated from Gaucher patients and from healthy controls, using RT-PCR methodology with semiquantitative analysis. We found significantly increased expression of IL-1β mRNA, as well as a trend to elevated TNF-α mRNA in Gaucher patients relative to healthy individuals. There were no statistically significant differences between Gaucher disease patients and controls with respect to two other tested cytokines (IL-6 and IL-8).