This discovery opens up new avenues of research on this disease but also on pathologies involving the immune system in general. This work is published in Science Translational Medicine.
Multiple sclerosis is a multi-gene disease, meaning that its development involves several genes. The involvement of major histocompatibility system (HLA) genes has been established for over thirty years.
It is only recently that the role of other genes has been discovered. A new gene predisposing to multiple sclerosis, the VAV1 gene, has just been identified in rats by the teams of Gilbert Fournié and Abdelhadi Saoudi.
The mutation of the Vav1 gene, demonstrated in experimental pathology, modifies the structure of the Vav1 protein. The variant of the gene encoding a protein with a tryptophan protects against multiple sclerosis, while that encoding a protein with an arginine predisposes to it.
The role of this gene in multiple sclerosis was initially discovered using experimental models in collaboration with the Swedish team. Based on this discovery, French and Swedish researchers have shown the involvement of the same gene in human pathology. To do so, they conducted a large-scale study involving more than 12,000 patients from several countries, including France.
The identified VAV1 gene plays a major role in the development and activation of T lymphocytes, important players in the immune system normally responsible for fighting viruses and other pathogens.
Currently, the researchers behind this discovery are studying the mechanisms by which this gene influences predisposition to multiple sclerosis. Ultimately, this work could lead to the development of new therapeutic approaches in multiple sclerosis and other diseases involving the same type of immune system dysfunction.
Source: Inserm
