Abstract
Mutations in the eIF2B gene cause the VWM disease. Genetic and biochemical data of MS patient and MRI data showing VWM images similar to MS lesions, encouraged the present study in which we analyzed the eIF2B5 gene in 225 unrelated MS patients to evaluate an overlapping between MS and VWM. A common variation Ile587Val was found very frequent in the MS patients respect normal controls, thus suggesting that Ile587Val should be considered as susceptibility factor in the development of MS. In conclusion, our data strongly highlight a possible involvement of the eIF2B5 in the development of MS.
Highlights
Multiple sclerosis (MS) is an inflammatory chronic disease characterized by a demyelinating process, which is followed by neurodegeneration
Even other genetic elements located within the Human Leukocyte Antigen (HLA) Complex, i.e., Heat Shock Proteins (HSP) that have been shown to be strikingly elevated in MS lesions, could have a role in the pathophysiology of MS [5]
Studies on candidate genes have focused the interest on different pathways but, despite very few results have been reached, each one of them is crucial for adding another wedge of the puzzle
Summary
Multiple sclerosis (MS) is an inflammatory chronic disease characterized by a demyelinating process, which is followed by neurodegeneration. Despite several linkage and association studies, the strongest and most consistently replicated evidence for a MS susceptibility gene has been localized to the Major Histocompatibility Complex (MHC) superlocus on chromosome 6p21.3 [3]. This data, together with the observed clinical and histopathological heterogeneity of the disease, further supported the hypothesis that the MSprone genotype results from multiple independent or interacting polymorphic genes, each exerting a small or, at most, moderate effect to the overall risk [4]. Even other genetic elements located within the Human Leukocyte Antigen (HLA) Complex, i.e., Heat Shock Proteins (HSP) that have been shown to be strikingly elevated in MS lesions, could have a role in the pathophysiology of MS [5]
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