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Abstract
Multiple sclerosis (MS) is an inflammatory neurodegenerative disease of the nervous
system with a profound genetic element. It is already known that alterations in Eukaryotic
Translation Initiation Factor 2B (EIF2B) gene encoding the five subunits of eIF2B
complex cause Vanishing White Matter (VWM) disease of the brain and emerging evidences
have advocated certain resemblances between MS and VWM in terms of clinical and epidemiological
characteristics, thus validating the association study between EIF2B and MS. Moreover,
a recent study has implicated EIF2B5 Ile587Val (rs843358) polymorphism as a susceptibility
factor for MS. In order to investigate the association of EIF2B5 Ile587Val polymorphism
with MS susceptibility in Kashmir region in India, we screened EIF2B5 Exon 13 in 30
MS patients and 65 controls (a total of 95 participants). During the present course
of study, we could not find statistically significant difference in the frequency
of Ile587Val between MS patients and controls, thus indicating that such alteration
does not appear to influence MS development in Kashmiri population. Our results provide
evidence against a major role for Ile587Val polymorphism in MS susceptibility.