IP: Dr. Andrés Celestino García Montero

Resumen del proyecto: Systemic Mastocytosis (SM) is a rare disease which makes it difficult to obtain a large number of patients. D816V activating c-kit mutation is present in the majority of SM patients independently of their severity. Secondary genetic alterations are thought to because of the aggressive cases. Despite the presence of this mutation in most hematological cell lineages is associated with the most aggressive SM cases. Recently, we demonstrated that the different subtypes of MS show a common gene expression pattern differs from that observed in control individuals, characterized by the activation of genes involved in immune and inflammatory responses as well as an increase in genes involved in lipid metabolism and protein. Moreover, in this study, we observed that the MSA possess different genetic profile of the MSI. MSA exhibit an altered genes related to apoptosis and/or cell cycle that does not appear in MSI are altered genes where related to adhession. More specifically, it was found that the molecular signature formed by the expression of genes encoding the following proteins (CCL23, IL-1 and IL13 ) allow to distinguish between MSI and MSA. These results suggest that the study of plasma levels of these proteins might be a goog tool for the monitoring of patients with high risk ISM progressing to aggressive forms.
Objective: identify parameters to design methodological strategies adaptable to conventional clinical laboratory with the aim of predicting the progression of the disease. Patients will be diagnosed and controlled by the Spanish network on mastocytosis (REMA). Methods: Protein expression studies by immuno-enzymatic assay (ELISA) and Cytometric Bead Array (CBA). Analysis of the correlation between gene expression and protein expression patterns, along with the associated clinical and environmental features will allow us to establish specific prognostic criteria.

Entidad financiadora: Instituto de Salud Carlos III y Junta de Castilla y León