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CSIC BIO025- Immunogenetic and pharmacogenetic factors related with Interleukin-2 and associated with the susceptibility to multiple sclerosis
We have investigated several factors related with the human IL-2 and their association with autoimmune diseases and have found that some new genetic traits in the human IL-2 gene locus are associated with the secondary progressive stage of multiple sclerosis. This kind of genetic details are easily detectable and can be utilized for the diagnostic of the susceptibility to diseases.
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DESCRIPTION

Multiple sclerosis (MS) constituts after traumatisms the most frequent cause of neurological disfunction in young adults, affecting to 1 in 1000 persons in Europe. MS is a chronic inflammatory disorder characterized by multi focal damage of the central nervous system (CNS). This is believed to be mediated by autoantigen-specific CD4+ T-cells and Th-1 cytokines affecting primarily oligodendrocytes (Raine, 1997; Noseworthy, 1999).

Interleukin-2 (IL-2) is an immunoregulatory cytokine, disregulation of the IL-2/IL-2 receptor system could lead to functional or pathological alterations in the immune system including autoimmunity. Standard genetic epidemiological studies of multiplex families, twins, half-siblings and adoptees have provided evidence for genetic contribution to disease. Many studies support an important genetic component of susceptibility to MS. Extensive efforts have been made to identify the major genes influencing disease susceptibility as well as the cytotoxic products targeting to oligodendrocytes. Major histocompatibility complex (MHC) genes are important, although estimations indicate that MHC genes contribute no more than 10% of the genetic susceptibility.

These results, together with our data, suggest that an equivalent locus in human may contain genetic elements determining disease susceptibility to MS. However, clarification of these elements in the human will require a fine mapping of all the SNPs in Il-2 and application to large patient collections.

INNOVATIVE ASPECTS

This is the first discovering that associates a genetic polymophism in a cytokine (the IL-2) with the susceptibility to multiple sclerosis and therefore contributs to the determination of the multiple genetic factors that, though so far undetermined except in the HLA molecules, are associated with the diseases.

COMPETITIVE ADVANTAGES

First genetic polymorphism associated to multiple sclerosis (MS).

PATENT

Applied for

CONTACT

JAVIER ECHAVE ORIA
email: j.etxabe@orgc.csic.es
phone: +34 915855375

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