SERUM CYTOKINE PROFILE IN TYPE 1 GAUCHER DISEASE PATIENTS CORRELATES WITH BONE PATHOLOGY

CRIVARO ANDREA; BONDAR CONSTANZA; MUCCI JUAN MARCOS; ORMAZABAL MAXIMILIANO; CECI ROMINA; OLIVERI BEATRIZ; GONZÁLEZ DIANA; ROZENFELD PAULA ADRIANA

Congreso; REUNIÓN CONJUNTA DE SOCIEDADES DE BIOCIENCIAS; 2017

Gaucher disease (GD) is caused by mutations on the gene encodingfor the lysosomal enzyme glucocerebrosidase. Type I GD (GD1)patients present anemia, hepatosplenomegaly and bone alterations.In spite of treatment, bone alterations in GD patients persist, includingpoor bone mineral density (BMD). Mechanisms leading to bonedamage are not completely understood, but previous reports suggestthat osteoclasts are involve. It is known that bone remodelingis regulated by the immune system, in part, through cytokineslike TNFα (inductor of osteoclastogenesis), TGFβ, IL-10 and INFϒ(inhibitors of osteoclasts differentiation). On the other hand, it hasbeen demonstrated that the accumulation of glucocerebrosidase inGD can induce macrophage activation and secretion of cytokinessuch as Il-6, IL-1β and TNFα.The aim of this work was to evaluate cytokines profile (TNFα, IL-6, TGFβ, IL-10 and INFϒ) and bone biomarkers (CTX and BAP) intreated patient´s serum and evaluate its relation with BMD and thepro-osteoclastogenic potential.The number of osteoclasts was determined by cultured PBMCswith M-CSF and stained for tartrate-resistant acid phosphatase(TRAP). CTX and BAP were assessed by electrochemiluminescenceand enzyme immunoassay, respectively; and cytokines weremeasured by ELISA.Serum levels of CTX in adult and pediatric GD1 patients wereincreased (p